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SOLH1_HUMAN
ID   SOLH1_HUMAN             Reviewed;         328 AA.
AC   Q5JUK2; C9JG81; Q5EE14; Q5EGC2; Q8NEE3;
DT   15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT   18-MAY-2010, sequence version 4.
DT   03-AUG-2022, entry version 133.
DE   RecName: Full=Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1;
GN   Name=SOHLH1; Synonyms=C9orf157, NOHLH, TEB2;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA], AND VARIANTS GLN-37 AND SER-269.
RX   PubMed=16564520; DOI=10.1016/j.ydbio.2006.02.027;
RA   Ballow D., Meistrich M.L., Matzuk M., Rajkovic A.;
RT   "Sohlh1 is essential for spermatogonial differentiation.";
RL   Dev. Biol. 294:161-167(2006).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15164053; DOI=10.1038/nature02465;
RA   Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA   Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA   Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA   Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA   Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA   Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA   Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA   Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA   Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA   Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA   Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA   Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA   Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA   Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA   Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA   Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA   Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA   Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA   McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA   Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA   Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA   Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA   Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA   West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA   Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA   Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA   Dunham I.;
RT   "DNA sequence and analysis of human chromosome 9.";
RL   Nature 429:369-374(2004).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS GLN-37 AND
RP   SER-269.
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA   Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA   Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA   Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA   Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA   Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA   Hunkapiller M.W., Myers E.W., Venter J.C.;
RL   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS GLN-37 AND SER-269.
RC   TISSUE=Testis;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 1-215.
RA   Smas C.M.;
RT   "Identification and functional characterization of two novel bHLH family
RT   members.";
RL   Submitted (JAN-2005) to the EMBL/GenBank/DDBJ databases.
RN   [6]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 279-328 (ISOFORM 2).
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA   Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA   Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA   Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA   Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA   Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA   Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA   Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA   Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA   Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA   Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA   Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA   Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA   Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA   Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA   Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA   Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA   Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA   Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [7]
RP   FUNCTION, INVOLVEMENT IN SPGF32, VARIANTS SPGF32 ARG-31; GLN-37; THR-177
RP   AND SER-269, AND CHARACTERIZATION OF VARIANTS SPGF32 ARG-31 AND THR-177.
RX   PubMed=20506135; DOI=10.1002/humu.21264;
RA   Choi Y., Jeon S., Choi M., Lee M.-H., Park M., Lee D.R., Jun K.-Y.,
RA   Kwon Y., Lee O.-H., Song S.-H., Kim J.-Y., Lee K.-A., Yoon T.K.,
RA   Rajkovic A., Shim S.H.;
RT   "Mutations in SOHLH1 gene associate with nonobstructive azoospermia.";
RL   Hum. Mutat. 31:788-793(2010).
RN   [8]
RP   INVOLVEMENT IN ODG5, AND VARIANT ODG5 TYR-9--ALA-328 DEL.
RX   PubMed=25774885; DOI=10.1210/jc.2015-1150;
RA   Bayram Y., Gulsuner S., Guran T., Abaci A., Yesil G., Gulsuner H.U.,
RA   Atay Z., Pierce S.B., Gambin T., Lee M., Turan S., Bober E., Atik M.M.,
RA   Walsh T., Karaca E., Pehlivan D., Jhangiani S.N., Muzny D., Bereket A.,
RA   Buyukgebiz A., Boerwinkle E., Gibbs R.A., King M.C., Lupski J.R.;
RT   "Homozygous loss-of-function mutations in SOHLH1 in patients with
RT   nonsyndromic hypergonadotropic hypogonadism.";
RL   J. Clin. Endocrinol. Metab. 100:E808-E814(2015).
RN   [9]
RP   INVOLVEMENT IN SPGF32.
RX   PubMed=28718531; DOI=10.1111/andr.12378;
RA   Nakamura S., Miyado M., Saito K., Katsumi M., Nakamura A., Kobori Y.,
RA   Tanaka Y., Ishikawa H., Yoshida A., Okada H., Hata K., Nakabayashi K.,
RA   Okamura K., Ogata H., Matsubara Y., Ogata T., Nakai H., Fukami M.;
RT   "Next-generation sequencing for patients with non-obstructive azoospermia:
RT   implications for significant roles of monogenic/oligogenic mutations.";
RL   Andrology 5:824-831(2017).
CC   -!- FUNCTION: Transcription regulator of both male and female germline
CC       differentiation. Suppresses genes involved in spermatogonial stem cells
CC       maintenance, and induces genes important for spermatogonial
CC       differentiation. Coordinates oocyte differentiation without affecting
CC       meiosis I (By similarity). {ECO:0000250|UniProtKB:Q6IUP1,
CC       ECO:0000250|UniProtKB:Q9D489, ECO:0000269|PubMed:20506135}.
CC   -!- SUBUNIT: Forms both hetero- and homodimers with SOHLH2.
CC       {ECO:0000250|UniProtKB:Q6IUP1}.
CC   -!- INTERACTION:
CC       Q5JUK2; Q08043: ACTN3; NbExp=3; IntAct=EBI-12288855, EBI-2880652;
CC       Q5JUK2; Q03989: ARID5A; NbExp=3; IntAct=EBI-12288855, EBI-948603;
CC       Q5JUK2; Q5SWW7: C10orf55; NbExp=3; IntAct=EBI-12288855, EBI-12809220;
CC       Q5JUK2; P42574: CASP3; NbExp=3; IntAct=EBI-12288855, EBI-524064;
CC       Q5JUK2; Q5T4B2: CERCAM; NbExp=3; IntAct=EBI-12288855, EBI-12261896;
CC       Q5JUK2; P78358: CTAG1B; NbExp=5; IntAct=EBI-12288855, EBI-1188472;
CC       Q5JUK2; Q86UW9: DTX2; NbExp=3; IntAct=EBI-12288855, EBI-740376;
CC       Q5JUK2; Q8WU58: FAM222B; NbExp=3; IntAct=EBI-12288855, EBI-2807642;
CC       Q5JUK2; Q9Y5R4: HEMK1; NbExp=3; IntAct=EBI-12288855, EBI-10329202;
CC       Q5JUK2; Q14005-2: IL16; NbExp=3; IntAct=EBI-12288855, EBI-17178971;
CC       Q5JUK2; Q3LI72: KRTAP19-5; NbExp=3; IntAct=EBI-12288855, EBI-1048945;
CC       Q5JUK2; Q7Z3B4: NUP54; NbExp=3; IntAct=EBI-12288855, EBI-741048;
CC       Q5JUK2; O43482: OIP5; NbExp=3; IntAct=EBI-12288855, EBI-536879;
CC       Q5JUK2; Q9UBV8: PEF1; NbExp=3; IntAct=EBI-12288855, EBI-724639;
CC       Q5JUK2; Q99471: PFDN5; NbExp=3; IntAct=EBI-12288855, EBI-357275;
CC       Q5JUK2; P54646: PRKAA2; NbExp=3; IntAct=EBI-12288855, EBI-1383852;
CC       Q5JUK2; P28070: PSMB4; NbExp=3; IntAct=EBI-12288855, EBI-603350;
CC       Q5JUK2; Q9BVN2: RUSC1; NbExp=3; IntAct=EBI-12288855, EBI-6257312;
CC       Q5JUK2; Q8IWL8: STH; NbExp=3; IntAct=EBI-12288855, EBI-12843506;
CC       Q5JUK2; P51687: SUOX; NbExp=3; IntAct=EBI-12288855, EBI-3921347;
CC       Q5JUK2; Q96A09: TENT5B; NbExp=3; IntAct=EBI-12288855, EBI-752030;
CC       Q5JUK2; Q08117-2: TLE5; NbExp=3; IntAct=EBI-12288855, EBI-11741437;
CC       Q5JUK2; Q13077: TRAF1; NbExp=3; IntAct=EBI-12288855, EBI-359224;
CC       Q5JUK2; Q8N6Y0: USHBP1; NbExp=3; IntAct=EBI-12288855, EBI-739895;
CC       Q5JUK2; Q9H0C1: ZMYND12; NbExp=3; IntAct=EBI-12288855, EBI-12030590;
CC   -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q6IUP1}. Nucleus
CC       {ECO:0000250|UniProtKB:Q6IUP1, ECO:0000255|PROSITE-ProRule:PRU00981}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q5JUK2-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q5JUK2-2; Sequence=VSP_039904;
CC   -!- DISEASE: Spermatogenic failure 32 (SPGF32) [MIM:618115]: An autosomal
CC       dominant infertility disorder caused by spermatogenesis defects that
CC       result in non-obstructive azoospermia. {ECO:0000269|PubMed:20506135,
CC       ECO:0000269|PubMed:28718531}. Note=The disease is caused by variants
CC       affecting the gene represented in this entry.
CC   -!- DISEASE: Ovarian dysgenesis 5 (ODG5) [MIM:617690]: A disorder
CC       characterized by lack of spontaneous pubertal development, primary
CC       amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a
CC       result of streak gonads. ODG5 is an autosomal recessive condition.
CC       {ECO:0000269|PubMed:25774885}. Note=The disease is caused by variants
CC       affecting the gene represented in this entry.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAW78548.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR   EMBL; AY902244; AAW82617.1; -; mRNA.
DR   EMBL; AL158822; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471090; EAW88175.1; -; Genomic_DNA.
DR   EMBL; BC031861; AAH31861.2; -; mRNA.
DR   EMBL; AY884306; AAW78548.1; ALT_INIT; mRNA.
DR   EMBL; DB304976; -; NOT_ANNOTATED_CDS; mRNA.
DR   CCDS; CCDS35174.1; -. [Q5JUK2-1]
DR   CCDS; CCDS48054.1; -. [Q5JUK2-2]
DR   RefSeq; NP_001012415.2; NM_001012415.2. [Q5JUK2-1]
DR   RefSeq; NP_001095147.1; NM_001101677.1. [Q5JUK2-2]
DR   AlphaFoldDB; Q5JUK2; -.
DR   BioGRID; 135454; 132.
DR   IntAct; Q5JUK2; 25.
DR   STRING; 9606.ENSP00000404438; -.
DR   iPTMnet; Q5JUK2; -.
DR   PhosphoSitePlus; Q5JUK2; -.
DR   BioMuta; SOHLH1; -.
DR   DMDM; 296453023; -.
DR   MassIVE; Q5JUK2; -.
DR   PaxDb; Q5JUK2; -.
DR   PeptideAtlas; Q5JUK2; -.
DR   PRIDE; Q5JUK2; -.
DR   Antibodypedia; 32071; 148 antibodies from 21 providers.
DR   DNASU; 402381; -.
DR   Ensembl; ENST00000298466.9; ENSP00000298466.5; ENSG00000165643.11. [Q5JUK2-1]
DR   Ensembl; ENST00000425225.2; ENSP00000404438.1; ENSG00000165643.11. [Q5JUK2-2]
DR   GeneID; 402381; -.
DR   KEGG; hsa:402381; -.
DR   MANE-Select; ENST00000425225.2; ENSP00000404438.1; NM_001101677.2; NP_001095147.2. [Q5JUK2-2]
DR   UCSC; uc004cgl.4; human. [Q5JUK2-1]
DR   CTD; 402381; -.
DR   DisGeNET; 402381; -.
DR   GeneCards; SOHLH1; -.
DR   HGNC; HGNC:27845; SOHLH1.
DR   HPA; ENSG00000165643; Group enriched (brain, choroid plexus, testis).
DR   MalaCards; SOHLH1; -.
DR   MIM; 610224; gene.
DR   MIM; 617690; phenotype.
DR   MIM; 618115; phenotype.
DR   neXtProt; NX_Q5JUK2; -.
DR   OpenTargets; ENSG00000165643; -.
DR   Orphanet; 399805; Male infertility with azoospermia or oligozoospermia due to single gene mutation.
DR   PharmGKB; PA134899168; -.
DR   VEuPathDB; HostDB:ENSG00000165643; -.
DR   eggNOG; ENOG502TDNY; Eukaryota.
DR   GeneTree; ENSGT00390000000656; -.
DR   HOGENOM; CLU_066456_0_0_1; -.
DR   InParanoid; Q5JUK2; -.
DR   OMA; CCEDSAQ; -.
DR   OrthoDB; 1106310at2759; -.
DR   PhylomeDB; Q5JUK2; -.
DR   TreeFam; TF336841; -.
DR   PathwayCommons; Q5JUK2; -.
DR   SignaLink; Q5JUK2; -.
DR   SIGNOR; Q5JUK2; -.
DR   BioGRID-ORCS; 402381; 15 hits in 1090 CRISPR screens.
DR   GenomeRNAi; 402381; -.
DR   Pharos; Q5JUK2; Tbio.
DR   PRO; PR:Q5JUK2; -.
DR   Proteomes; UP000005640; Chromosome 9.
DR   RNAct; Q5JUK2; protein.
DR   Bgee; ENSG00000165643; Expressed in right frontal lobe and 52 other tissues.
DR   ExpressionAtlas; Q5JUK2; baseline and differential.
DR   Genevisible; Q5JUK2; HS.
DR   GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR   GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR   GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR   GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR   GO; GO:0046982; F:protein heterodimerization activity; ISS:UniProtKB.
DR   GO; GO:0042803; F:protein homodimerization activity; ISS:UniProtKB.
DR   GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR   GO; GO:0030154; P:cell differentiation; ISS:UniProtKB.
DR   GO; GO:0009994; P:oocyte differentiation; ISS:UniProtKB.
DR   GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR   GO; GO:0007283; P:spermatogenesis; ISS:UniProtKB.
DR   Gene3D; 4.10.280.10; -; 1.
DR   InterPro; IPR011598; bHLH_dom.
DR   InterPro; IPR036638; HLH_DNA-bd_sf.
DR   InterPro; IPR032668; SOHLH1.
DR   PANTHER; PTHR16223:SF14; PTHR16223:SF14; 1.
DR   Pfam; PF00010; HLH; 1.
DR   SMART; SM00353; HLH; 1.
DR   SUPFAM; SSF47459; SSF47459; 1.
DR   PROSITE; PS50888; BHLH; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Cytoplasm; Developmental protein; Differentiation;
KW   Disease variant; DNA-binding; Nucleus; Reference proteome; Spermatogenesis;
KW   Transcription; Transcription regulation.
FT   CHAIN           1..328
FT                   /note="Spermatogenesis- and oogenesis-specific basic helix-
FT                   loop-helix-containing protein 1"
FT                   /id="PRO_0000315698"
FT   DOMAIN          53..104
FT                   /note="bHLH"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT   REGION          290..328
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VAR_SEQ         317..328
FT                   /note="EWGPGFRAGPPA -> SLEGRGGSGPAWAPAESSPLDVGEPGFLGDPELGSQ
FT                   ELQDSPLEPWGLDVDCAGLALKDEVESIFPDFFAC (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_039904"
FT   VARIANT         9..328
FT                   /note="Missing (in ODG5)"
FT                   /evidence="ECO:0000269|PubMed:25774885"
FT                   /id="VAR_080221"
FT   VARIANT         31
FT                   /note="C -> R (in SPGF32; unknown pathological
FT                   significance; does not have any significant effect on its
FT                   transactivation; dbSNP:rs199935200)"
FT                   /evidence="ECO:0000269|PubMed:20506135"
FT                   /id="VAR_064060"
FT   VARIANT         37
FT                   /note="R -> Q (in dbSNP:rs471525)"
FT                   /evidence="ECO:0000269|PubMed:15489334,
FT                   ECO:0000269|PubMed:16564520, ECO:0000269|PubMed:20506135,
FT                   ECO:0000269|Ref.3"
FT                   /id="VAR_038281"
FT   VARIANT         177
FT                   /note="P -> T (in SPGF32; unknown pathological
FT                   significance; does not have any significant effect on its
FT                   transactivation; dbSNP:rs201142743)"
FT                   /evidence="ECO:0000269|PubMed:20506135"
FT                   /id="VAR_064061"
FT   VARIANT         269
FT                   /note="P -> S (in dbSNP:rs3119932)"
FT                   /evidence="ECO:0000269|PubMed:15489334,
FT                   ECO:0000269|PubMed:16564520, ECO:0000269|PubMed:20506135,
FT                   ECO:0000269|Ref.3"
FT                   /id="VAR_038282"
FT   CONFLICT        293
FT                   /note="S -> F (in Ref. 6; DB304976)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   328 AA;  34526 MW;  0518B04A0E991529 CRC64;
     MASRCSEPYP EVSRIPTVRG CNGSLSGALS CCEDSARGSG PPKAPTVAEG PSSCLRRNVI
     SERERRKRMS LSCERLRALL PQFDGRREDM ASVLEMSVQF LRLASALGPS QEQHAILASS
     KEMWHSLQED VLQLTLSSQI QAGVPDPGTG ASSGTRTPDV KAFLESPWSL DPASASPEPV
     PHILASSRQW DPASCTSLGT DKCEALLGLC QVRGGLPPFS EPSSLVPWPP GRSLPKAVRP
     PLSWPPFSQQ QTLPVMSGEA LGWLGQAGPL AMGAAPLGEP AKEDPMLAQE AGSALGSDVD
     DGTSFLLTAG PSSWPGEWGP GFRAGPPA
 
 
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