KHDC1_HUMAN
ID KHDC1_HUMAN Reviewed; 237 AA.
AC Q4VXA5; Q5JSQ7; Q8WTV2; Q96NQ5;
DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2005, sequence version 1.
DT 03-AUG-2022, entry version 117.
DE RecName: Full=KH homology domain-containing protein 1;
GN Name=KHDC1 {ECO:0000312|HGNC:HGNC:21366};
GN Synonyms=C6orf147 {ECO:0000312|HGNC:HGNC:21366},
GN C6orf148 {ECO:0000312|HGNC:HGNC:21366};
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 [LARGE SCALE MRNA].
RC TISSUE=Cerebellum;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain, and Ovary;
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 IDENTIFICATION.
RX PubMed=17913455; DOI=10.1016/j.ygeno.2007.06.003;
RA Pierre A., Gautier M., Callebaut I., Bontoux M., Jeanpierre E.,
RA Pontarotti P., Monget P.;
RT "Atypical structure and phylogenomic evolution of the new eutherian
RT oocyte- and embryo-expressed KHDC1/DPPA5/ECAT1/OOEP gene family.";
RL Genomics 90:583-594(2007).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q4VXA5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q4VXA5-2; Sequence=VSP_029543;
CC -!- SIMILARITY: Belongs to the KHDC1 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB70824.1; Type=Miscellaneous discrepancy; Note=Cloning artifact.; Evidence={ECO:0000305};
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DR EMBL; AK054891; BAB70824.1; ALT_SEQ; mRNA.
DR EMBL; AL365232; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471051; EAW48778.1; -; Genomic_DNA.
DR EMBL; CH471051; EAW48780.1; -; Genomic_DNA.
DR EMBL; BC022080; AAH22080.1; -; mRNA.
DR EMBL; BC035766; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS43480.1; -. [Q4VXA5-2]
DR CCDS; CCDS59027.1; -. [Q4VXA5-1]
DR RefSeq; NP_001238803.1; NM_001251874.1. [Q4VXA5-1]
DR RefSeq; NP_085045.3; NM_030568.4. [Q4VXA5-2]
DR AlphaFoldDB; Q4VXA5; -.
DR BioGRID; 123293; 18.
DR IntAct; Q4VXA5; 1.
DR STRING; 9606.ENSP00000359411; -.
DR iPTMnet; Q4VXA5; -.
DR PhosphoSitePlus; Q4VXA5; -.
DR BioMuta; KHDC1; -.
DR DMDM; 74753931; -.
DR MassIVE; Q4VXA5; -.
DR PaxDb; Q4VXA5; -.
DR PeptideAtlas; Q4VXA5; -.
DR PRIDE; Q4VXA5; -.
DR Antibodypedia; 35152; 79 antibodies from 21 providers.
DR DNASU; 80759; -.
DR Ensembl; ENST00000257765.9; ENSP00000257765.5; ENSG00000135314.13. [Q4VXA5-2]
DR Ensembl; ENST00000370384.7; ENSP00000359411.3; ENSG00000135314.13. [Q4VXA5-1]
DR Ensembl; ENST00000610435.4; ENSP00000479158.1; ENSG00000135314.13. [Q4VXA5-2]
DR GeneID; 80759; -.
DR KEGG; hsa:80759; -.
DR MANE-Select; ENST00000257765.10; ENSP00000257765.5; NM_030568.5; NP_085045.3. [Q4VXA5-2]
DR UCSC; uc003pgn.5; human. [Q4VXA5-1]
DR CTD; 80759; -.
DR GeneCards; KHDC1; -.
DR HGNC; HGNC:21366; KHDC1.
DR HPA; ENSG00000135314; Tissue enhanced (brain).
DR MIM; 611688; gene.
DR neXtProt; NX_Q4VXA5; -.
DR OpenTargets; ENSG00000135314; -.
DR PharmGKB; PA162392802; -.
DR VEuPathDB; HostDB:ENSG00000135314; -.
DR eggNOG; ENOG502TCCK; Eukaryota.
DR GeneTree; ENSGT00940000154353; -.
DR HOGENOM; CLU_102222_0_0_1; -.
DR InParanoid; Q4VXA5; -.
DR OMA; ALCKKPW; -.
DR OrthoDB; 1594877at2759; -.
DR PhylomeDB; Q4VXA5; -.
DR TreeFam; TF337964; -.
DR PathwayCommons; Q4VXA5; -.
DR BioGRID-ORCS; 80759; 8 hits in 1072 CRISPR screens.
DR ChiTaRS; KHDC1; human.
DR GenomeRNAi; 80759; -.
DR Pharos; Q4VXA5; Tbio.
DR PRO; PR:Q4VXA5; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q4VXA5; protein.
DR Bgee; ENSG00000135314; Expressed in prefrontal cortex and 104 other tissues.
DR ExpressionAtlas; Q4VXA5; baseline and differential.
DR Genevisible; Q4VXA5; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0003723; F:RNA binding; IBA:GO_Central.
DR GO; GO:0006919; P:activation of cysteine-type endopeptidase activity involved in apoptotic process; IBA:GO_Central.
DR CDD; cd12795; FILIA_N_like; 1.
DR Gene3D; 3.30.1370.10; -; 1.
DR InterPro; IPR036612; KH_dom_type_1_sf.
DR InterPro; IPR031952; MOEP19_KH-like.
DR Pfam; PF16005; MOEP19; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Membrane; Reference proteome; RNA-binding;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..237
FT /note="KH homology domain-containing protein 1"
FT /id="PRO_0000311358"
FT TRANSMEM 7..29
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 33..50
FT /note="Helical"
FT /evidence="ECO:0000255"
FT DOMAIN 96..155
FT /note="KH; atypical"
FT VAR_SEQ 1..73
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029543"
FT CONFLICT 144
FT /note="Missing (in Ref. 4; AAH22080)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 237 AA; 27160 MW; 0339CBE4FAB1FA47 CRC64;
MLSAFQRLFR VLFVIETVSE YGVLIFIYGW PFLQTLAMLL IGTVSFHLWI RRNRERNSRS
GKTRCRSKRS EQSMDMGTSA LSKKPWWTLP QNFHAPMVFH MEEDQEELIF GHGDTYLRCI
EVHSHTLIQL ESWFTATGQT RVTVVGPHRA RQWLLHMFCC VGSQDSYHHA RGLEMLERVR
SQPLTNDDLV TSISVPPYTG DLSLAPRISG TVCLSVPQPS PYQVIGCSGF HLSSLYP
