SHOC1 (shortage in chiasmata 1)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 158401
Gene name Shortage in chiasmata 1
Gene symbol SHOC1
Synonyms (NCBI Gene)
C9orf84MZIP2SPGF75ZIP2ZIP2H
Chromosome 9
Chromosome location 9q31.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (17)
GO ID Ontology Definition Evidence Reference
GO:0000712 Process Resolution of meiotic recombination intermediates IBA
GO:0000712 Process Resolution of meiotic recombination intermediates IEA
GO:0000712 Process Resolution of meiotic recombination intermediates ISS
GO:0000794 Component Condensed nuclear chromosome IBA
GO:0000794 Component Condensed nuclear chromosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618038 26535 ENSG00000165181
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5VXU9
Protein name Protein shortage in chiasmata 1 ortholog (EC 3.6.-.-) (Protein ZIP2 homolog) (MZIP2)
Protein function ATPase required during meiosis for the formation of crossover recombination intermediates (By similarity). Binds DNA: preferentially binds to single-stranded DNA and DNA branched structures (PubMed:29742103). Does not show nuclease activity in v
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17825 DUF5587 1 → 1444 Family of unknown function (DUF5587) Family
Sequence 
MTDTSVLDQWKASFFVEDFLEKKTITRMVTQINCEFEEVVPSSNPDSQIEVEEVSLYTHM
DYNEVFTPVSCLEKCSALQNQNQDLFIDDKGILFVSSRKHLPTLPTLLSRLKLFLVKDPL
LDFKGQIFTEANFSRECFSLQETLEAFVKEDFCMDKVNFCQEKLEDTICLNEPSSFLIEY
EFLIPPSLKPEIDIPSLSELKELLNPVPEIINYVDEKEKLFERDLTNKHGIEDIGDIKFS
STEILTIQSQSEPEECSKPGELEMPLTPLFLTCQHSSVNSLRTELQTFPLSPVCKINLLT
AEESANEYYMMWQLERCRSPLNPFLLTVPRIQEPHSQYSVTDLKKIFSVKEESLVINLEK
AEWWKQAGLNLKMMETLEHLNTYLCHDNLSSNDTKIEIFLPTKVLQLESCLEHKSHSSPI
ALIDEKSTNAHLSLPQKSPSLAKEVPDLCFSDDYFSDKGAAKEEKPKNDQEPVNRIIQKK
ENNDHFELDCTGPSIKSPSSSIIKKASFEHGKKQENDLDLLSDFIMLRNKYKTCTSKTEV
TNSDEKHDKEACSLTLQEESPIVHINKTLEEINQERGTDSVIEIQASDSQCQAFCLLEAA
ASPILKNLVSLCTLPTANWKFATVIFDQTRFLLKEQEKVVSDAVRQGTIDEREMTFKHAA
LLHLLVTIRDVLLTCSLDTALGYLSKAKDIYNSILGPYLGDIWRQLEIVQFIRGKKPETN
YKIQELQCQILSWMQSQQQIKVLIIIRMDSDGEKHFLIKILNKIEGLTLTVLHSNERKDF
LESEGVLRGTSSCVVVHNQYIGADFPWSNFSFVVEYNYVEDSCWTKHCKELNIPYMAFKV
ILPDTVLERSTLLDRFGGFLLEIQIPYVFFASEGLLNTPDILQLLESNYNISLVERGCSE
SLKLFGSSECYVVVTIDEHTAIILQDLEELNYEKASDNIIMRLMALSLQYRYCWIILYTK
ETLNSEYLLTEKTLHHLALIYAALVSFGLNSEELDVKLIIAPGVEATALIIRQIADHSLM
TSKRDPHEWLDKSWLKVSPSEEEMYLLDFPCINPLVAQLMLNKGPSLHWILLATLCQLQE
LLPEVPEKVLKHFCSITSLFKIGSSSITKSPQISSPQENRNQISTLSSQSSASDLDSVIQ
EHNEYYQYLGLGETVQEDKTTILNDNSSIMELKEISSFLPPVTSYNQTSYWKDSSCKSNI
GQNTPFLINIESRRPAYNSFLNHSDSESDVFSLGLTQMNCETIKSPTDTQKRVSVVPRFI
NSQKRRTHEAKGFINKDVSDPIFSLEGTQSPLHWNFKKNIWEQENHPFNLQYGAQQTACN
KLYSQKGNLFTDQQKCLSDESEGLTCESSKDETFWRELPSVPSLDLFRASDSNANQKEFN
SLYFYQRAGKSLGQKRHHESSFNSGDKESLTGFMCSQLPQFKKRRLAYEKVPGRVDGQTR
LRFF
Sequence length 1444
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
11
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Non-obstructive azoospermia Pathogenic rs2131485407 RCV001648497
SHOC1-related condition Likely pathogenic; Pathogenic rs1004968910 RCV004758882
Spermatogenic failure 75 Pathogenic; Likely pathogenic rs2131520030, rs1004968910, rs777595871, rs779445148, rs2131436525, rs755742775, rs533026166 RCV002261462
RCV002261463
RCV002261464
RCV002261465
RCV002261466
RCV002261467
RCV002261468
Show/Hide Text Mining Associations (2)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Stomach Neoplasms Associate 36008864
Stroke Associate 36958462