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HORMAD1 HORMA domain containing 1 [ Homo sapiens (human) ]

Gene ID: 84072, updated on 11-Jun-2021

Summary

Official Symbol
HORMAD1provided by HGNC
Official Full Name
HORMA domain containing 1provided by HGNC
Primary source
HGNC:HGNC:25245
See related
Ensembl:ENSG00000143452 MIM:609824
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CT46; NOHMA
Summary
This gene encodes a HORMA domain-containing protein. HORMA domains are involved in chromatin binding and play a role in cell cycle regulation. The encoded protein may play a role in meiosis, and expression of this gene is a potential marker for cancer. A pseudogene of this gene is located on the long arm of chromosome 6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
Expression
Restricted expression toward testis (RPKM 50.3) See more
Orthologs
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Genomic context

See HORMAD1 in Genome Data Viewer
Location:
1q21.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (150698060..150720910, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (150670536..150693371, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268239 Neighboring gene golgi phosphoprotein 3 like Neighboring gene RNA, U6 small nuclear 1042, pseudogene Neighboring gene cathepsin S Neighboring gene short coiled-coil protein pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp434A1315

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in blastocyst development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in meiotic DNA double-strand break formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in meiotic cell cycle ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in meiotic recombination checkpoint signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in meiotic recombination checkpoint signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in meiotic sister chromatid cohesion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in oogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of homologous chromosome segregation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in synaptonemal complex assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in synaptonemal complex assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in chromosome ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 
located_in synaptonemal complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
HORMA domain-containing protein 1
Names
cancer/testis antigen 46
newborn ovary HORMA protein
testis tissue sperm-binding protein Li 86P

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001199829.2NP_001186758.1  HORMA domain-containing protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001186758.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AA991355, AL136755, AL356292, BU570274
    Consensus CDS
    CCDS55633.1
    UniProtKB/Swiss-Prot
    Q86X24
    Related
    ENSP00000326489.7, ENST00000322343.11
    Conserved Domains (1) summary
    pfam02301
    Location:23213
    HORMA; HORMA domain
  2. NM_032132.5NP_115508.2  HORMA domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_115508.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AA991355, AL356292, BC047406, BU570274
    Consensus CDS
    CCDS967.1
    UniProtKB/Swiss-Prot
    Q86X24
    UniProtKB/TrEMBL
    A0A140VKG9
    Related
    ENSP00000355167.2, ENST00000361824.7
    Conserved Domains (1) summary
    pfam02301
    Location:26220
    HORMA; HORMA domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    150698060..150720910 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510054.2XP_011508356.1  HORMA domain-containing protein 1 isoform X1

    Conserved Domains (1) summary
    pfam02301
    Location:23220
    HORMA; HORMA domain
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