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Protein

HORMA domain-containing protein 1

Gene

Hormad1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein 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.3 Publications

GO - Biological processi

  • blastocyst development Source: UniProtKB
  • meiotic DNA double-strand break formation Source: UniProtKB
  • meiotic nuclear division Source: UniProtKB
  • meiotic recombination checkpoint Source: UniProtKB
  • meiotic sister chromatid cohesion Source: UniProtKB
  • oogenesis Source: UniProtKB
  • regulation of homologous chromosome segregation Source: UniProtKB
  • spermatogenesis Source: UniProtKB
  • synapsis Source: MGI
  • synaptonemal complex assembly Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Differentiation, Meiosis, Oogenesis, Spermatogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
HORMA domain-containing protein 1
Alternative name(s):
Newborn ovary HORMA protein
Gene namesi
Name:Hormad1
Synonyms:Nohma
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 3

Organism-specific databases

MGIiMGI:1915231. Hormad1.

Subcellular locationi

Isoform 1 :
  • Nucleus
  • Chromosome

  • Note: Preferentially localizes to unsynapsed or desynapsed chromosomal regions during the prophase I stage of meiosis. Accumulates on the chromosomes during the leptotene to zygotene stages of meiotic prophase I. As germ cells progress into the pachytene stage, disappears from the synapsed chromosomal regions. Once the chromosomes desynapse during the diplotene stage, it again accumulates on the chromosome axis of the desynapsed homologs. TRIP13 is required for depletion from synapsed chromosomes. The expression of the phosphorylated form at Ser-375 is restricted to unsynapsed chromosomal regions.

GO - Cellular componenti

  • chromosome Source: UniProtKB
  • condensed nuclear chromosome Source: MGI
  • cytoplasm Source: UniProtKB
  • nucleus Source: UniProtKB
  • synaptonemal complex Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Chromosome, Cytoplasm, Nucleus

Pathology & Biotechi

Disruption phenotypei

Mice develop normally without obvious somatic defects but males and females are sterile. Although spermatocytes are present in testis tubules at epithelial cycle stage III-IV, they undergo apoptosis by the end of stage IV, and post-meiotic cells are not found in testes, suggesting that spermatocytes are eliminated at a stage equivalent to mid-pachytene. In females, ovarian development is grossly normal, eggs fertilize and embryonic development arrests at blastocyst stage due to aneuploidy.2 Publications

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 392392HORMA domain-containing protein 1PRO_0000284666Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei375 – 3751PhosphoserineCombined sources1 Publication

Post-translational modificationi

Phosphorylated at Ser-375 in a SPO11-dependent manner.2 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9D5T7.
PRIDEiQ9D5T7.

PTM databases

iPTMnetiQ9D5T7.
PhosphoSiteiQ9D5T7.

Expressioni

Tissue specificityi

Specifically expressed in meiotic germ cells.4 Publications

Developmental stagei

Expressed in spermatocytes from P10 to adulthood. Expressed in oocytes from E12.5 to P9. Primarily detected in spermatocytes and less in spermatids or spermatogonia. Abundant in the nuclei of pachytene and zygotene cells. Also detected in nuclei of diplotene cells (at protein level).3 Publications

Gene expression databases

BgeeiENSMUSG00000028109.
CleanExiMM_HORMAD1.
GenevisibleiQ9D5T7. MM.

Interactioni

Subunit structurei

Interacts with HORMAD2.1 Publication

Protein-protein interaction databases

BioGridi212580. 1 interaction.
IntActiQ9D5T7. 1 interaction.
STRINGi10090.ENSMUSP00000088303.

Structurei

3D structure databases

ProteinModelPortaliQ9D5T7.
SMRiQ9D5T7. Positions 17-194.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini25 – 227203HORMAPROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi381 – 3844Nuclear localization signalCurated

Sequence similaritiesi

Contains 1 HORMA domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG4652. Eukaryota.
ENOG410XT4N. LUCA.
GeneTreeiENSGT00390000018130.
HOGENOMiHOG000293366.
HOVERGENiHBG074209.
InParanoidiQ9D5T7.
OMAiKYLRMVV.
OrthoDBiEOG091G0F8O.
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 (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9D5T7-1) [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
MATMQLQRTA SLSALVFPNK ISTEHQSLMF VKRLLAVSVS CITYLRGIFP
60 70 80 90 100
ERAYGTRYLD DLCVKILKED KNCPGSSQLV KWMLGCYDAL QKKYLRMIIL
110 120 130 140 150
AVYTNPGDPQ TISECYQFKF KYTKNGPIMD FISKNQNNKS STTSADTKKA
160 170 180 190 200
SILLIRKIYV LMQNLGPLPN DVCLTMKLFY YDEVTPPDYQ PPGFKDGDCE
210 220 230 240 250
GVIFDGDPTY LNVGEVPTPF HTFRLKVTTE KERMENIDST ILKPKESKTQ
260 270 280 290 300
FEKILMDKDD VEDENHNNFD IKTKMNEQNE NSGASEIKEP NLDCKEEETM
310 320 330 340 350
QFKKSQSPSI SHCQVEQLVS KTSELDVSES KTRSGKIFQS KMVNGNNQQG
360 370 380 390
QTSKENRKRS LRQFRKTVLH VLESSQESVL KKRRVSEPKE HT
Length:392
Mass (Da):44,933
Last modified:June 1, 2001 - v1
Checksum:i891D1A76CFE242F1
GO
Isoform 2 (identifier: Q9D5T7-2) [UniParc]FASTAAdd to basket
Also known as: HORMAD1S

The sequence of this isoform differs from the canonical sequence as follows:
     368-392: VLHVLESSQESVLKKRRVSEPKEHT → INAPECR

Show »
Length:374
Mass (Da):42,819
Checksum:i62F0ACA4B1F04A51
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti140 – 1401S → Y in BAB30195 (PubMed:16141072).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei368 – 39225VLHVL…PKEHT → INAPECR in isoform 2. 3 PublicationsVSP_024604Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY626343 mRNA. Translation: AAT45739.1.
AY634284 mRNA. Translation: AAT47126.1.
AK014945 mRNA. Translation: BAB29633.1.
AK016324 mRNA. Translation: BAB30195.1.
AK016743 mRNA. Translation: BAB30406.1.
AK163995 mRNA. Translation: BAE37577.1.
BC051129 mRNA. Translation: AAH51129.1.
CCDSiCCDS38547.1. [Q9D5T7-2]
CCDS71292.1. [Q9D5T7-1]
RefSeqiNP_001276461.1. NM_001289532.1. [Q9D5T7-1]
NP_001276463.1. NM_001289534.1. [Q9D5T7-2]
NP_001276466.1. NM_001289537.1. [Q9D5T7-2]
NP_080765.1. NM_026489.3. [Q9D5T7-2]
UniGeneiMm.179050.

Genome annotation databases

EnsembliENSMUST00000029754; ENSMUSP00000029754; ENSMUSG00000028109. [Q9D5T7-1]
ENSMUST00000090797; ENSMUSP00000088303; ENSMUSG00000028109. [Q9D5T7-2]
ENSMUST00000107154; ENSMUSP00000102772; ENSMUSG00000028109. [Q9D5T7-2]
ENSMUST00000171191; ENSMUSP00000127180; ENSMUSG00000028109. [Q9D5T7-2]
GeneIDi67981.
KEGGimmu:67981.
UCSCiuc008qkb.2. mouse. [Q9D5T7-2]
uc008qkd.2. mouse. [Q9D5T7-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY626343 mRNA. Translation: AAT45739.1.
AY634284 mRNA. Translation: AAT47126.1.
AK014945 mRNA. Translation: BAB29633.1.
AK016324 mRNA. Translation: BAB30195.1.
AK016743 mRNA. Translation: BAB30406.1.
AK163995 mRNA. Translation: BAE37577.1.
BC051129 mRNA. Translation: AAH51129.1.
CCDSiCCDS38547.1. [Q9D5T7-2]
CCDS71292.1. [Q9D5T7-1]
RefSeqiNP_001276461.1. NM_001289532.1. [Q9D5T7-1]
NP_001276463.1. NM_001289534.1. [Q9D5T7-2]
NP_001276466.1. NM_001289537.1. [Q9D5T7-2]
NP_080765.1. NM_026489.3. [Q9D5T7-2]
UniGeneiMm.179050.

3D structure databases

ProteinModelPortaliQ9D5T7.
SMRiQ9D5T7. Positions 17-194.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi212580. 1 interaction.
IntActiQ9D5T7. 1 interaction.
STRINGi10090.ENSMUSP00000088303.

PTM databases

iPTMnetiQ9D5T7.
PhosphoSiteiQ9D5T7.

Proteomic databases

PaxDbiQ9D5T7.
PRIDEiQ9D5T7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000029754; ENSMUSP00000029754; ENSMUSG00000028109. [Q9D5T7-1]
ENSMUST00000090797; ENSMUSP00000088303; ENSMUSG00000028109. [Q9D5T7-2]
ENSMUST00000107154; ENSMUSP00000102772; ENSMUSG00000028109. [Q9D5T7-2]
ENSMUST00000171191; ENSMUSP00000127180; ENSMUSG00000028109. [Q9D5T7-2]
GeneIDi67981.
KEGGimmu:67981.
UCSCiuc008qkb.2. mouse. [Q9D5T7-2]
uc008qkd.2. mouse. [Q9D5T7-1]

Organism-specific databases

CTDi84072.
MGIiMGI:1915231. Hormad1.

Phylogenomic databases

eggNOGiKOG4652. Eukaryota.
ENOG410XT4N. LUCA.
GeneTreeiENSGT00390000018130.
HOGENOMiHOG000293366.
HOVERGENiHBG074209.
InParanoidiQ9D5T7.
OMAiKYLRMVV.
OrthoDBiEOG091G0F8O.
TreeFamiTF313989.

Miscellaneous databases

PROiQ9D5T7.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000028109.
CleanExiMM_HORMAD1.
GenevisibleiQ9D5T7. MM.

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_MOUSE
AccessioniPrimary (citable) accession number: Q9D5T7
Secondary accession number(s): Q9CUF3, Q9D473
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: June 1, 2001
Last modified: September 7, 2016
This is version 92 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. 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.