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Protein

HORMA domain-containing protein 1

Gene

HORMAD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

Plays a key role in meiotic progression. Regulates 3 different functions during meiosis: ensures that sufficient numbers of processed DNA double-strand breaks (DSBs) are available for successful homology search by increasing the steady-state numbers of single-stranded DSB ends. Promotes synaptonemal-complex formation independently of its role in homology search. Plays a key role in the male mid-pachytene checkpoint and the female meiotic prophase checkpoint: required for efficient build-up of ATR activity on unsynapsed chromosome regions, a process believed to form the basis of meiotic silencing of unsynapsed chromatin (MSUC) and meiotic prophase quality control in both sexes (By similarity).By similarity

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Differentiation, Meiosis, Oogenesis, Spermatogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
HORMA domain-containing protein 1
Alternative name(s):
Cancer/testis antigen 46
Short name:
CT46
Newborn ovary HORMA protein
Gene namesi
Name:HORMAD1
Synonyms:NOHMA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:25245. HORMAD1.

Subcellular locationi

  • Nucleus By similarity
  • Chromosome By similarity

  • Note: Preferentially localizes to unsynapsed or desynapsed chromosomal regions during the prophase I stage of meiosis. TRIP13 is required for depletion from synapsed chromosomes. The expression of the phosphorylated form at Ser-377 is restricted to unsynapsed chromosomal regions (By similarity).By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Chromosome, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi84072.
OpenTargetsiENSG00000143452.
PharmGKBiPA134930374.

Polymorphism and mutation databases

BioMutaiHORMAD1.
DMDMi74750516.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002846641 – 394HORMA domain-containing protein 1Add BLAST394

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei376PhosphoserineBy similarity1

Post-translational modificationi

Phosphorylated at Ser-377 in a SPO11-dependent manner.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ86X24.
PaxDbiQ86X24.
PeptideAtlasiQ86X24.
PRIDEiQ86X24.

PTM databases

iPTMnetiQ86X24.
PhosphoSitePlusiQ86X24.

Expressioni

Tissue specificityi

Testis-specific. Over-expressed in carcinomas.1 Publication

Gene expression databases

BgeeiENSG00000143452.
CleanExiHS_HORMAD1.
ExpressionAtlasiQ86X24. baseline and differential.
GenevisibleiQ86X24. HS.

Organism-specific databases

HPAiHPA037850.

Interactioni

Subunit structurei

Interacts with HORMAD2.By similarity

Protein-protein interaction databases

BioGridi123867. 2 interactors.
IntActiQ86X24. 1 interactor.
MINTiMINT-4718808.
STRINGi9606.ENSP00000355167.

Structurei

3D structure databases

ProteinModelPortaliQ86X24.
SMRiQ86X24.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini24 – 226HORMAPROSITE-ProRule annotationAdd BLAST203

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi383 – 386Nuclear localization signalCurated4

Sequence similaritiesi

Contains 1 HORMA domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG4652. Eukaryota.
ENOG410XT4N. LUCA.
GeneTreeiENSGT00390000018130.
HOVERGENiHBG074209.
InParanoidiQ86X24.
OMAiKYLRMVV.
OrthoDBiEOG091G0F8O.
PhylomeDBiQ86X24.
TreeFamiTF313989.

Family and domain databases

Gene3Di3.30.900.10. 1 hit.
InterProiIPR003511. HORMA_dom.
[Graphical view]
PfamiPF02301. HORMA. 1 hit.
[Graphical view]
SUPFAMiSSF56019. SSF56019. 1 hit.
PROSITEiPS50815. HORMA. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q86X24-1) [UniParc]FASTAAdd to basket
Also known as: HORMAD1L

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MATAQLQRTP MSALVFPNKI STEHQSLVLV KRLLAVSVSC ITYLRGIFPE
60 70 80 90 100
CAYGTRYLDD LCVKILREDK NCPGSTQLVK WMLGCYDALQ KKYLRMVVLA
110 120 130 140 150
VYTNPEDPQT ISECYQFKFK YTNNGPLMDF ISKNQSNESS MLSTDTKKAS
160 170 180 190 200
ILLIRKIYIL MQNLGPLPND VCLTMKLFYY DEVTPPDYQP PGFKDGDCEG
210 220 230 240 250
VIFEGEPMYL NVGEVSTPFH IFKVKVTTER ERMENIDSTI LSPKQIKTPF
260 270 280 290 300
QKILRDKDVE DEQEHYTSDD LDIETKMEEQ EKNPASSELE EPSLVCEEDE
310 320 330 340 350
IMRSKESPDL SISHSQVEQL VNKTSELDMS ESKTRSGKVF QNKMANGNQP
360 370 380 390
VKSSKENRKR SQHESGRIVL HHFDSSSQES VPKRRKFSEP KEHI
Length:394
Mass (Da):45,200
Last modified:June 1, 2003 - v1
Checksum:i1025FFA4E0041A0C
GO
Isoform 2 (identifier: Q86X24-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     94-100: Missing.

Show »
Length:387
Mass (Da):44,417
Checksum:i9A191FA3EF774904
GO
Isoform 3 (identifier: Q86X24-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-71: Missing.
     72-80: CPGSTQLVK → MRLWNKISR

Show »
Length:323
Mass (Da):37,459
Checksum:i5960D5C107EA6995
GO
Isoform 4 (identifier: Q86X24-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-71: Missing.
     72-80: CPGSTQLVK → MRLWNKISR
     101-109: Missing.

Show »
Length:314
Mass (Da):36,415
Checksum:i84677C9B9A3BAF75
GO
Isoform 5 (identifier: Q86X24-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-71: Missing.
     72-80: CPGSTQLVK → MRLWNKISR
     94-100: Missing.

Show »
Length:316
Mass (Da):36,676
Checksum:iF36750690A8D43F9
GO

Sequence cautioni

The sequence AAH33014 differs from that shown. Reason: Frameshift at position 89.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti225K → E in AAH33014 (PubMed:15489334).Curated1
Sequence conflicti264E → G in CAG38536 (PubMed:15567723).Curated1
Sequence conflicti305K → E in CAG38536 (PubMed:15567723).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031801267T → I.1 PublicationCorresponds to variant rs1336900dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0246001 – 71Missing in isoform 3, isoform 4 and isoform 5. 1 PublicationAdd BLAST71
Alternative sequenceiVSP_02460172 – 80CPGSTQLVK → MRLWNKISR in isoform 3, isoform 4 and isoform 5. 1 Publication9
Alternative sequenceiVSP_02460294 – 100Missing in isoform 2 and isoform 5. 3 Publications7
Alternative sequenceiVSP_024603101 – 109Missing in isoform 4. 1 Publication9

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY626344 mRNA. Translation: AAT45740.1.
AL136755 mRNA. Translation: CAB66689.1.
CR533505 mRNA. Translation: CAG38536.1.
AK097390 mRNA. Translation: BAG53463.1.
AL356292 Genomic DNA. Translation: CAI13652.1.
AL356292 Genomic DNA. Translation: CAI13653.1.
AL356292 Genomic DNA. Translation: CAI13654.1.
AL356292 Genomic DNA. Translation: CAI13655.1.
AL356292 Genomic DNA. Translation: CAI13656.1.
CH471121 Genomic DNA. Translation: EAW53523.1.
BC033014 mRNA. Translation: AAH33014.1. Frameshift.
BC047406 mRNA. Translation: AAH47406.1.
CCDSiCCDS55633.1. [Q86X24-2]
CCDS967.1. [Q86X24-1]
RefSeqiNP_001186758.1. NM_001199829.1. [Q86X24-2]
NP_115508.2. NM_032132.4. [Q86X24-1]
XP_006711633.1. XM_006711570.2. [Q86X24-3]
XP_006711634.1. XM_006711571.2. [Q86X24-5]
XP_011508355.1. XM_011510053.2. [Q86X24-1]
UniGeneiHs.298312.

Genome annotation databases

EnsembliENST00000322343; ENSP00000326489; ENSG00000143452. [Q86X24-2]
ENST00000361824; ENSP00000355167; ENSG00000143452. [Q86X24-1]
ENST00000368995; ENSP00000357991; ENSG00000143452. [Q86X24-4]
GeneIDi84072.
KEGGihsa:84072.
UCSCiuc001evk.3. human. [Q86X24-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY626344 mRNA. Translation: AAT45740.1.
AL136755 mRNA. Translation: CAB66689.1.
CR533505 mRNA. Translation: CAG38536.1.
AK097390 mRNA. Translation: BAG53463.1.
AL356292 Genomic DNA. Translation: CAI13652.1.
AL356292 Genomic DNA. Translation: CAI13653.1.
AL356292 Genomic DNA. Translation: CAI13654.1.
AL356292 Genomic DNA. Translation: CAI13655.1.
AL356292 Genomic DNA. Translation: CAI13656.1.
CH471121 Genomic DNA. Translation: EAW53523.1.
BC033014 mRNA. Translation: AAH33014.1. Frameshift.
BC047406 mRNA. Translation: AAH47406.1.
CCDSiCCDS55633.1. [Q86X24-2]
CCDS967.1. [Q86X24-1]
RefSeqiNP_001186758.1. NM_001199829.1. [Q86X24-2]
NP_115508.2. NM_032132.4. [Q86X24-1]
XP_006711633.1. XM_006711570.2. [Q86X24-3]
XP_006711634.1. XM_006711571.2. [Q86X24-5]
XP_011508355.1. XM_011510053.2. [Q86X24-1]
UniGeneiHs.298312.

3D structure databases

ProteinModelPortaliQ86X24.
SMRiQ86X24.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123867. 2 interactors.
IntActiQ86X24. 1 interactor.
MINTiMINT-4718808.
STRINGi9606.ENSP00000355167.

PTM databases

iPTMnetiQ86X24.
PhosphoSitePlusiQ86X24.

Polymorphism and mutation databases

BioMutaiHORMAD1.
DMDMi74750516.

Proteomic databases

MaxQBiQ86X24.
PaxDbiQ86X24.
PeptideAtlasiQ86X24.
PRIDEiQ86X24.

Protocols and materials databases

DNASUi84072.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000322343; ENSP00000326489; ENSG00000143452. [Q86X24-2]
ENST00000361824; ENSP00000355167; ENSG00000143452. [Q86X24-1]
ENST00000368995; ENSP00000357991; ENSG00000143452. [Q86X24-4]
GeneIDi84072.
KEGGihsa:84072.
UCSCiuc001evk.3. human. [Q86X24-1]

Organism-specific databases

CTDi84072.
DisGeNETi84072.
GeneCardsiHORMAD1.
HGNCiHGNC:25245. HORMAD1.
HPAiHPA037850.
MIMi609824. gene.
neXtProtiNX_Q86X24.
OpenTargetsiENSG00000143452.
PharmGKBiPA134930374.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4652. Eukaryota.
ENOG410XT4N. LUCA.
GeneTreeiENSGT00390000018130.
HOVERGENiHBG074209.
InParanoidiQ86X24.
OMAiKYLRMVV.
OrthoDBiEOG091G0F8O.
PhylomeDBiQ86X24.
TreeFamiTF313989.

Miscellaneous databases

ChiTaRSiHORMAD1. human.
GeneWikiiHORMAD1.
GenomeRNAii84072.
PROiQ86X24.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000143452.
CleanExiHS_HORMAD1.
ExpressionAtlasiQ86X24. baseline and differential.
GenevisibleiQ86X24. HS.

Family and domain databases

Gene3Di3.30.900.10. 1 hit.
InterProiIPR003511. HORMA_dom.
[Graphical view]
PfamiPF02301. HORMA. 1 hit.
[Graphical view]
SUPFAMiSSF56019. SSF56019. 1 hit.
PROSITEiPS50815. HORMA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiHORM1_HUMAN
AccessioniPrimary (citable) accession number: Q86X24
Secondary accession number(s): A6NMK2
, B3KUK1, Q4G114, Q5T5I3, Q5T5I4, Q5T5I5, Q6FIC1, Q9H0K8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: June 1, 2003
Last modified: November 30, 2016
This is version 109 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.