SHOC1_HUMAN
ID SHOC1_HUMAN Reviewed; 1444 AA.
AC Q5VXU9; A2A2V3; Q2M1H8; Q96M73;
DT 19-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 07-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 118.
DE RecName: Full=Protein shortage in chiasmata 1 ortholog {ECO:0000305};
DE EC=3.6.-.- {ECO:0000269|PubMed:29742103};
DE AltName: Full=Protein ZIP2 homolog {ECO:0000250|UniProtKB:A2ALV5};
DE Short=MZIP2 {ECO:0000250|UniProtKB:A2ALV5};
GN Name=SHOC1 {ECO:0000303|PubMed:29742103, ECO:0000312|HGNC:HGNC:26535};
GN Synonyms=C9orf84 {ECO:0000312|HGNC:HGNC:26535},
GN ZIP2 {ECO:0000250|UniProtKB:A2ALV5};
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] (ISOFORM 2).
RC TISSUE=Testis;
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=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 MRNA] (ISOFORM 2).
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 [4]
RP FUNCTION, AND INTERACTION WITH TEX11.
RX PubMed=29742103; DOI=10.1371/journal.pgen.1007381;
RA Guiraldelli M.F., Felberg A., Almeida L.P., Parikh A., de Castro R.O.,
RA Pezza R.J.;
RT "SHOC1 is a ERCC4-(HhH)2-like protein, integral to the formation of
RT crossover recombination intermediates during mammalian meiosis.";
RL PLoS Genet. 14:E1007381-E1007381(2018).
CC -!- FUNCTION: ATPase required during meiosis for the formation of crossover
CC recombination intermediates (By similarity). Binds DNA: preferentially
CC binds to single-stranded DNA and DNA branched structures
CC (PubMed:29742103). Does not show nuclease activity in vitro, but shows
CC ATPase activity, which is stimulated by the presence of single-stranded
CC DNA (PubMed:29742103). Plays a key role in homologous recombination and
CC crossing-over in meiotic prophase I in male and female germ cells (By
CC similarity). Requiref for recruitment TEX11 and MSH4 to recombination
CC intermediates (By similarity). {ECO:0000250|UniProtKB:A2ALV5,
CC ECO:0000269|PubMed:29742103}.
CC -!- SUBUNIT: Interacts with TEX11 (PubMed:29742103). Interacts with SPO16
CC (By similarity). {ECO:0000250|UniProtKB:A2ALV5,
CC ECO:0000269|PubMed:29742103}.
CC -!- SUBCELLULAR LOCATION: Chromosome {ECO:0000250|UniProtKB:A2ALV5}.
CC Note=Localizes to meiotic chromosomes; associates with mid-stage
CC meiotic recombination intermediates. Localization requires meiotic
CC double-strand breaks (DSBs) recombination intermediates catalyzed by
CC DMC1. {ECO:0000250|UniProtKB:A2ALV5}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q5VXU9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5VXU9-2; Sequence=VSP_014747, VSP_014748, VSP_014749;
CC Name=3;
CC IsoId=Q5VXU9-3; Sequence=VSP_046641;
CC -!- SIMILARITY: Belongs to the XPF family. Highly divergent. {ECO:0000305}.
CC -!- CAUTION: Although related to the XPF family, the nuclease active site
CC is not conserved. {ECO:0000305|PubMed:29742103}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK057341; BAB71436.1; -; mRNA.
DR EMBL; AL135787; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL356491; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL354877; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC112357; AAI12358.1; -; mRNA.
DR CCDS; CCDS43863.1; -. [Q5VXU9-3]
DR CCDS; CCDS6781.3; -. [Q5VXU9-1]
DR RefSeq; XP_011516604.1; XM_011518302.2. [Q5VXU9-1]
DR RefSeq; XP_011516605.1; XM_011518303.1. [Q5VXU9-1]
DR AlphaFoldDB; Q5VXU9; -.
DR IntAct; Q5VXU9; 1.
DR STRING; 9606.ENSP00000363405; -.
DR iPTMnet; Q5VXU9; -.
DR PhosphoSitePlus; Q5VXU9; -.
DR BioMuta; C9orf84; -.
DR DMDM; 71152416; -.
DR EPD; Q5VXU9; -.
DR MassIVE; Q5VXU9; -.
DR PaxDb; Q5VXU9; -.
DR PeptideAtlas; Q5VXU9; -.
DR PRIDE; Q5VXU9; -.
DR ProteomicsDB; 231; -.
DR ProteomicsDB; 65615; -. [Q5VXU9-1]
DR Antibodypedia; 49256; 33 antibodies from 5 providers.
DR DNASU; 158401; -.
DR Ensembl; ENST00000318737.8; ENSP00000322108.4; ENSG00000165181.17. [Q5VXU9-1]
DR Ensembl; ENST00000374283.5; ENSP00000363401.5; ENSG00000165181.17. [Q5VXU9-2]
DR Ensembl; ENST00000374287.7; ENSP00000363405.3; ENSG00000165181.17. [Q5VXU9-1]
DR Ensembl; ENST00000394779.7; ENSP00000378259.3; ENSG00000165181.17. [Q5VXU9-3]
DR GeneID; 158401; -.
DR UCSC; uc004bfq.5; human. [Q5VXU9-1]
DR CTD; 158401; -.
DR DisGeNET; 158401; -.
DR GeneCards; SHOC1; -.
DR HGNC; HGNC:26535; SHOC1.
DR HPA; ENSG00000165181; Tissue enriched (testis).
DR MIM; 618038; gene.
DR neXtProt; NX_Q5VXU9; -.
DR OpenTargets; ENSG00000165181; -.
DR PharmGKB; PA134876692; -.
DR VEuPathDB; HostDB:ENSG00000165181; -.
DR eggNOG; ENOG502QVCW; Eukaryota.
DR GeneTree; ENSGT00390000013037; -.
DR HOGENOM; CLU_004755_1_0_1; -.
DR InParanoid; Q5VXU9; -.
DR OMA; TCNLDTA; -.
DR OrthoDB; 60413at2759; -.
DR PhylomeDB; Q5VXU9; -.
DR TreeFam; TF338326; -.
DR PathwayCommons; Q5VXU9; -.
DR SignaLink; Q5VXU9; -.
DR BioGRID-ORCS; 158401; 8 hits in 1059 CRISPR screens.
DR ChiTaRS; C9orf84; human.
DR GenomeRNAi; 158401; -.
DR Pharos; Q5VXU9; Tdark.
DR PRO; PR:Q5VXU9; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q5VXU9; protein.
DR Bgee; ENSG00000165181; Expressed in pancreatic ductal cell and 76 other tissues.
DR ExpressionAtlas; Q5VXU9; baseline and differential.
DR Genevisible; Q5VXU9; HS.
DR GO; GO:0005694; C:chromosome; ISS:UniProtKB.
DR GO; GO:0000794; C:condensed nuclear chromosome; ISS:UniProtKB.
DR GO; GO:0016887; F:ATP hydrolysis activity; IDA:UniProtKB.
DR GO; GO:0003697; F:single-stranded DNA binding; IDA:UniProtKB.
DR GO; GO:0007131; P:reciprocal meiotic recombination; ISS:UniProtKB.
DR GO; GO:0000712; P:resolution of meiotic recombination intermediates; ISS:UniProtKB.
DR InterPro; IPR039991; SHOC1.
DR PANTHER; PTHR35668; PTHR35668; 1.
DR Pfam; PF17825; DUF5587; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Chromosome; DNA-binding; Hydrolase; Meiosis;
KW Reference proteome.
FT CHAIN 1..1444
FT /note="Protein shortage in chiasmata 1 ortholog"
FT /id="PRO_0000089719"
FT REGION 1106..1129
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..84
FT /note="MTDTSVLDQWKASFFVEDFLEKKTITRMVTQINCEFEEVVPSSNPDSQIEVE
FT EVSLYTHMDYNEVFTPVSCLEKCSALQNQNQD -> MSETLGDELEILRGKMMQRRPRS
FT AEVKYFYFFKILLRLRLAILKY (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_046641"
FT VAR_SEQ 1
FT /note="M -> MFSALKYHAIDYLYENVVRKKFYRDALLLRIPSCLYQDESYHVAVTD
FT NKFRRPWTRVSAVSVPGM (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_014747"
FT VAR_SEQ 409..424
FT /note="SCLEHKSHSSPIALID -> CKYITVNISYVNIFRM (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_014748"
FT VAR_SEQ 425..1444
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_014749"
FT VARIANT 226
FT /note="T -> S (in dbSNP:rs10981047)"
FT /id="VAR_050829"
FT VARIANT 416
FT /note="H -> R (in dbSNP:rs7470491)"
FT /id="VAR_050830"
FT VARIANT 649
FT /note="I -> T (in dbSNP:rs1322257)"
FT /id="VAR_050831"
FT VARIANT 734
FT /note="M -> L (in dbSNP:rs11791445)"
FT /id="VAR_050832"
FT VARIANT 788
FT /note="R -> K (in dbSNP:rs7868266)"
FT /id="VAR_050833"
FT VARIANT 809
FT /note="N -> K (in dbSNP:rs7036568)"
FT /id="VAR_050834"
FT VARIANT 932
FT /note="Y -> C (in dbSNP:rs1407390)"
FT /id="VAR_050835"
FT VARIANT 968
FT /note="L -> P (in dbSNP:rs6477845)"
FT /id="VAR_050836"
FT VARIANT 1162
FT /note="I -> T (in dbSNP:rs1475110)"
FT /id="VAR_050837"
FT VARIANT 1174
FT /note="E -> G (in dbSNP:rs7869279)"
FT /id="VAR_050838"
FT VARIANT 1380
FT /note="N -> K (in dbSNP:rs1322254)"
FT /id="VAR_050839"
FT VARIANT 1425
FT /note="R -> C (in dbSNP:rs10981009)"
FT /id="VAR_050840"
SQ SEQUENCE 1444 AA; 165202 MW; 1C442CBA253CF4A6 CRC64;
MTDTSVLDQW KASFFVEDFL EKKTITRMVT QINCEFEEVV PSSNPDSQIE VEEVSLYTHM
DYNEVFTPVS CLEKCSALQN QNQDLFIDDK GILFVSSRKH LPTLPTLLSR LKLFLVKDPL
LDFKGQIFTE ANFSRECFSL QETLEAFVKE DFCMDKVNFC QEKLEDTICL NEPSSFLIEY
EFLIPPSLKP EIDIPSLSEL KELLNPVPEI INYVDEKEKL FERDLTNKHG IEDIGDIKFS
STEILTIQSQ SEPEECSKPG ELEMPLTPLF LTCQHSSVNS LRTELQTFPL SPVCKINLLT
AEESANEYYM MWQLERCRSP LNPFLLTVPR IQEPHSQYSV TDLKKIFSVK EESLVINLEK
AEWWKQAGLN LKMMETLEHL NTYLCHDNLS SNDTKIEIFL PTKVLQLESC LEHKSHSSPI
ALIDEKSTNA HLSLPQKSPS LAKEVPDLCF SDDYFSDKGA AKEEKPKNDQ EPVNRIIQKK
ENNDHFELDC TGPSIKSPSS SIIKKASFEH GKKQENDLDL LSDFIMLRNK YKTCTSKTEV
TNSDEKHDKE ACSLTLQEES PIVHINKTLE EINQERGTDS VIEIQASDSQ CQAFCLLEAA
ASPILKNLVS LCTLPTANWK FATVIFDQTR FLLKEQEKVV SDAVRQGTID EREMTFKHAA
LLHLLVTIRD VLLTCSLDTA LGYLSKAKDI YNSILGPYLG DIWRQLEIVQ FIRGKKPETN
YKIQELQCQI LSWMQSQQQI KVLIIIRMDS DGEKHFLIKI LNKIEGLTLT VLHSNERKDF
LESEGVLRGT SSCVVVHNQY IGADFPWSNF SFVVEYNYVE DSCWTKHCKE LNIPYMAFKV
ILPDTVLERS TLLDRFGGFL LEIQIPYVFF ASEGLLNTPD ILQLLESNYN ISLVERGCSE
SLKLFGSSEC YVVVTIDEHT AIILQDLEEL NYEKASDNII MRLMALSLQY RYCWIILYTK
ETLNSEYLLT EKTLHHLALI YAALVSFGLN SEELDVKLII APGVEATALI IRQIADHSLM
TSKRDPHEWL DKSWLKVSPS EEEMYLLDFP CINPLVAQLM LNKGPSLHWI LLATLCQLQE
LLPEVPEKVL KHFCSITSLF KIGSSSITKS PQISSPQENR NQISTLSSQS SASDLDSVIQ
EHNEYYQYLG LGETVQEDKT TILNDNSSIM ELKEISSFLP PVTSYNQTSY WKDSSCKSNI
GQNTPFLINI ESRRPAYNSF LNHSDSESDV FSLGLTQMNC ETIKSPTDTQ KRVSVVPRFI
NSQKRRTHEA KGFINKDVSD PIFSLEGTQS PLHWNFKKNI WEQENHPFNL QYGAQQTACN
KLYSQKGNLF TDQQKCLSDE SEGLTCESSK DETFWRELPS VPSLDLFRAS DSNANQKEFN
SLYFYQRAGK SLGQKRHHES SFNSGDKESL TGFMCSQLPQ FKKRRLAYEK VPGRVDGQTR
LRFF
