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UniProtKB - Q8IYA8 (IHO1_HUMAN)

Entry version 131 (10 Feb 2021)
Sequence version 2 (30 Nov 2010)
Previous versions | rss
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Protein

Interactor of HORMAD1 protein 1

Gene

IHO1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Required for DNA double-strand breaks (DSBs) formation in unsynapsed regions during meiotic recombination. Probably acts by forming a complex with MEI4 and REC114, which activates DSBs formation in unsynapsed regions, an essential step to ensure completion of synapsis. Not required for HORMAD1 functions in pairing-independent synaptonemal complex formation, ATR recruitment to unsynapsed axes, meiotic silencing of unsynapsed chromatin (MSUC) or meiotic surveillance.By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processDifferentiation, DNA recombination, Meiosis, Oogenesis, Spermatogenesis

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8IYA8

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Interactor of HORMAD1 protein 11 Publication
Alternative name(s):
Cancer/testis antigen 74
Short name:
CT74
Coiled-coil domain-containing protein 36Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:IHO11 PublicationImported
Synonyms:CCDC36Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:27945, IHO1

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8IYA8

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000173421.16

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Chromosome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...DisGeNETi		339834

Open Targets

More...OpenTargetsi		ENSG00000173421

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142672191

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8IYA8, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CCDC36

Domain mapping of disease mutations (DMDM)

More...DMDMi		313104087

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003028751 – 594Interactor of HORMAD1 protein 1Add BLAST594

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei588PhosphoserineBy similarity1
Modified residuei589PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8IYA8

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q8IYA8

PeptideAtlas

More...PeptideAtlasi		Q8IYA8

PRoteomics IDEntifications database

More...PRIDEi		Q8IYA8

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		71135 [Q8IYA8-1]
71136 [Q8IYA8-2]
71137 [Q8IYA8-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8IYA8

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q8IYA8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000173421, Expressed in testis and 115 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8IYA8, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000173421, Tissue enriched (testis)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with HORMAD1 (PubMed:27723721).

Interacts with REC114 (By similarity). Part of the MCD recombinosome complex, at least composed of IHO1, REC114 and MEI4 (By similarity).

Interacts with ANKRD31 (By similarity).

By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Q8IYA8
With#Exp.IntAct
ABI2 [Q9NYB9]6EBI-8638439,EBI-743598
ABI2 - isoform 2 [Q9NYB9-2]3EBI-8638439,EBI-11096309
ABI3 [Q9P2A4]3EBI-8638439,EBI-742038
ADAMTS12 - isoform 3 [P58397-3]3EBI-8638439,EBI-12048761
AQP1 [P29972]3EBI-8638439,EBI-745213
ATN1 [Q86V38]3EBI-8638439,EBI-11954292
BOLA2B [A0A087WZT3]3EBI-8638439,EBI-12006120
C1orf109 [Q9NX04]6EBI-8638439,EBI-8643161
CARD9 [Q9H257]3EBI-8638439,EBI-751319
CARD9 - isoform 2 [Q9H257-2]3EBI-8638439,EBI-11530605
CCDC120 [Q96HB5]3EBI-8638439,EBI-744556
CCDC57 - isoform 2 [Q2TAC2-2]3EBI-8638439,EBI-10961624
CDC23 [Q9UJX2]6EBI-8638439,EBI-396137
CFAP206 [Q8IYR0]3EBI-8638439,EBI-749051
COX5B [P10606]4EBI-8638439,EBI-1053725
DYNLL1 [P63167]6EBI-8638439,EBI-349105
DYNLL2 [Q96FJ2]3EBI-8638439,EBI-742371
EFHC1 [Q5JVL4]3EBI-8638439,EBI-743105
EXOC8 [Q8IYI6]3EBI-8638439,EBI-742102
FAM124A [Q86V42]3EBI-8638439,EBI-744506
FAM124B - isoform 2 [Q9H5Z6-2]3EBI-8638439,EBI-11986315
FANCL [Q9NW38]3EBI-8638439,EBI-2339898
FASLG [P48023]3EBI-8638439,EBI-495538
FHL3 [Q13643]4EBI-8638439,EBI-741101
FKBP6 [O75344]8EBI-8638439,EBI-744771
GEM [P55040]3EBI-8638439,EBI-744104
GLYCTK [Q8IVS8]3EBI-8638439,EBI-748515
GYS1 [P13807]6EBI-8638439,EBI-740553
hCG_1987119 [A0A024R8L2]3EBI-8638439,EBI-14103818
HEXIM2 [Q96MH2]3EBI-8638439,EBI-5460660
IQUB [Q8NA54]4EBI-8638439,EBI-10220600
KANK2 [Q63ZY3]6EBI-8638439,EBI-2556193
KIF9 [Q9HAQ2]3EBI-8638439,EBI-8472129
KIFC3 - isoform 4 [Q9BVG8-5]3EBI-8638439,EBI-14069005
KLC3 [Q6P597]3EBI-8638439,EBI-1643885
KLHL11 [Q9NVR0]3EBI-8638439,EBI-2691832
KLK6 [Q92876]3EBI-8638439,EBI-2432309
LMO2 [P25791]3EBI-8638439,EBI-739696
LMO2 - isoform 3 [P25791-3]3EBI-8638439,EBI-11959475
LNX1 [Q8TBB1]3EBI-8638439,EBI-739832
LONRF1 [Q17RB8]6EBI-8638439,EBI-2341787
MAGEB4 [O15481]3EBI-8638439,EBI-751857
MAGOHB [Q96A72]3EBI-8638439,EBI-746778
MAPK9 [P45984]3EBI-8638439,EBI-713568
MID2 - isoform 2 [Q9UJV3-2]3EBI-8638439,EBI-10172526
MRFAP1L1 [Q96HT8]7EBI-8638439,EBI-748896
NEK6 [Q9HC98]3EBI-8638439,EBI-740364
NEK6 - isoform 4 [Q9HC98-4]3EBI-8638439,EBI-11750983
NFKBID [Q8NI38]3EBI-8638439,EBI-10271199
NGB [Q9NPG2]6EBI-8638439,EBI-10311409
PICK1 [Q9NRD5]3EBI-8638439,EBI-79165
POLR1C [O15160]3EBI-8638439,EBI-1055079
PRKAB2 [O43741]6EBI-8638439,EBI-1053424
PRR34 [Q9NV39]3EBI-8638439,EBI-11959565
RABGEF1 - isoform 3 [Q9UJ41-4]3EBI-8638439,EBI-14093916
RAD51D [O75771]6EBI-8638439,EBI-1055693
RHOBTB3 [O94955]3EBI-8638439,EBI-2367123
RUNX1T1 - isoform MTG8A [Q06455-2]3EBI-8638439,EBI-11984663
RUNX1T1 - isoform 4 [Q06455-4]3EBI-8638439,EBI-10224192
SDCBP [O00560]3EBI-8638439,EBI-727004
STK25 [O00506]3EBI-8638439,EBI-618295
TRIM14 [Q14142]3EBI-8638439,EBI-2820256
TRIM42 [Q8IWZ5]3EBI-8638439,EBI-5235829
TTC19 [Q6DKK2]6EBI-8638439,EBI-948354
USP2 [O75604]3EBI-8638439,EBI-743272
USP20 [A0A024R8A9]3EBI-8638439,EBI-14096082
USP20 [Q9Y2K6]3EBI-8638439,EBI-2511991
ZKSCAN3 [Q9BRR0]3EBI-8638439,EBI-1965777
ZNF417 [Q8TAU3]3EBI-8638439,EBI-740727
ZNF688 [A0A0S2Z5X4]3EBI-8638439,EBI-16429014
Q9H6143EBI-8638439,EBI-10249899

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		130947, 91 interactors

Protein interaction database and analysis system

More...IntActi		Q8IYA8, 81 interactors

Molecular INTeraction database

More...MINTi		Q8IYA8

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000391788

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8IYA8, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q8IYA8

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili109 – 135Sequence analysisAdd BLAST27
Coiled coili165 – 189Sequence analysisAdd BLAST25
Coiled coili219 – 245Sequence analysisAdd BLAST27

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502S0PR, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000012418

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_034910_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8IYA8

Identification of Orthologs from Complete Genome Data

More...OMAi		EFIEMKS

Database of Orthologous Groups

More...OrthoDBi		974040at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8IYA8

TreeFam database of animal gene trees

More...TreeFami		TF337135

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR031529, IHO1

The PANTHER Classification System

More...PANTHERi		PTHR35662, PTHR35662, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF15771, IHO1, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q8IYA8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MNFNVWNIKE MLSIPSGSGN KKSSNWNNNQ NDYSSLSDSQ FLFGSQFCPE 
        60         70         80         90        100
NSETLSAPLD FGAHLRHSKQ SQQNYLEGEP SIFTKYQTKP QLFGGDIKDG 
       110        120        130        140        150
GLFPPPLSVG KSKGLLEQFE EKKKRAKDKC DSETLYNFVS NVRESILRLQ 
       160        170        180        190        200
TSVEKSEDHL SSRSQSILDS LETVAKTLQE TIQAQNDLVF EAVQDKGNME 
       210        220        230        240        250
QAILEMKKRF EARQGEFIEM KSNLKHLEVL VAQQSQEFQQ LCEQLGQLNV 
       260        270        280        290        300
PSVLAELKRL ISVPPVKDSA SQTSPPLAQS LNLTRQEKYT SEKPVLWQAQ 
       310        320        330        340        350
ALPAAWNPGM GSLQPGEFDV WGEGAKNDDL QEEAALPAFG SHERNRHVKD 
       360        370        380        390        400
KVVQTNCKNW AVTKTGAKNH GSSVPGHKIP SDRDLVSQGA SQLTSLEINF 
       410        420        430        440        450
STSIKNACQK YQAQSMFLCD PREHLVIKQK DGTVEMRGKD KKQQPRKAHR 
       460        470        480        490        500
AHRGRLIASK QKQIPIQTCK FNSKYQSPQP AISVPQSPFL GQQEPRAQPL 
       510        520        530        540        550
HLQCPRSPRK PVCPILGGTV MPNKTVRAVQ GRLLQLSRCS SQDNWLLSSS 
       560        570        580        590 
SQGDHQMSWF SDLNLGCSET PLCKEAGKNL LYDLGFDSSD DDGF
Length:594
Mass (Da):66,343
Last modified:November 30, 2010 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i36E6C739E55DF4B1
GO
Isoform 2 (identifier: Q8IYA8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-19: MNFNVWNIKEMLSIPSGSG → MARVDAKAKEAPRASEGCQHAVTSQR
     91-117: Missing.

Show »
Length:574
Mass (Da):64,264
Checksum:i9127B48535B0C518
GO
Isoform 3 (identifier: Q8IYA8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     133-203: ETLYNFVSNV...QDKGNMEQAI → CRRLWKSLRT...HRVSDERMGI
     204-594: Missing.

Show »
Length:203
Mass (Da):23,196
Checksum:i39D09FB06217D536
GO

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH36202 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_035002440D → E. Corresponds to variant dbSNP:rs13068038Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0279871 – 19MNFNV…PSGSG → MARVDAKAKEAPRASEGCQH AVTSQR in isoform 2. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_02798891 – 117Missing in isoform 2. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_027989133 – 203ETLYN…MEQAI → CRRLWKSLRTISVQEANLFW ILWRLWPRHVSASCLRYQQR ALVNDEHELSDPSLVSSGEV PHRVSDERMGI in isoform 3. 1 PublicationAdd BLAST71
Alternative sequenceiVSP_027990204 – 594Missing in isoform 3. 1 PublicationAdd BLAST391

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AC121247 Genomic DNA No translation available.
AC135506 Genomic DNA No translation available.
BC015057 mRNA No translation available.
BC036202 mRNA Translation: AAH36202.1 Different initiation.
AK058049 mRNA Translation: BAB71640.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS33755.2 [Q8IYA8-1]

NCBI Reference Sequences

More...RefSeqi		NP_001128669.1, NM_001135197.1 [Q8IYA8-1]
NP_835467.2, NM_178173.3 [Q8IYA8-1]
XP_006713187.1, XM_006713124.3 [Q8IYA8-1]
XP_011531974.1, XM_011533672.2 [Q8IYA8-1]
XP_011531975.1, XM_011533673.2 [Q8IYA8-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000296449; ENSP00000296449; ENSG00000173421 [Q8IYA8-1]
ENST00000366429; ENSP00000403700; ENSG00000173421 [Q8IYA8-3]
ENST00000438782; ENSP00000391788; ENSG00000173421 [Q8IYA8-1]
ENST00000452691; ENSP00000407837; ENSG00000173421 [Q8IYA8-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		339834

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:339834

UCSC genome browser

More...UCSCi		uc003cwk.3, human [Q8IYA8-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC121247 Genomic DNA No translation available.
AC135506 Genomic DNA No translation available.
BC015057 mRNA No translation available.
BC036202 mRNA Translation: AAH36202.1 Different initiation.
AK058049 mRNA Translation: BAB71640.1
CCDSiCCDS33755.2 [Q8IYA8-1]
RefSeqiNP_001128669.1, NM_001135197.1 [Q8IYA8-1]
NP_835467.2, NM_178173.3 [Q8IYA8-1]
XP_006713187.1, XM_006713124.3 [Q8IYA8-1]
XP_011531974.1, XM_011533672.2 [Q8IYA8-1]
XP_011531975.1, XM_011533673.2 [Q8IYA8-1]

3D structure databases

SMRiQ8IYA8
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi130947, 91 interactors
IntActiQ8IYA8, 81 interactors
MINTiQ8IYA8
STRINGi9606.ENSP00000391788

PTM databases

iPTMnetiQ8IYA8
PhosphoSitePlusiQ8IYA8

Genetic variation databases

BioMutaiCCDC36
DMDMi313104087

Proteomic databases

MassIVEiQ8IYA8
PaxDbiQ8IYA8
PeptideAtlasiQ8IYA8
PRIDEiQ8IYA8
ProteomicsDBi71135 [Q8IYA8-1]
71136 [Q8IYA8-2]
71137 [Q8IYA8-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		48985, 177 antibodies

The DNASU plasmid repository

More...DNASUi		339834

Genome annotation databases

EnsembliENST00000296449; ENSP00000296449; ENSG00000173421 [Q8IYA8-1]
ENST00000366429; ENSP00000403700; ENSG00000173421 [Q8IYA8-3]
ENST00000438782; ENSP00000391788; ENSG00000173421 [Q8IYA8-1]
ENST00000452691; ENSP00000407837; ENSG00000173421 [Q8IYA8-1]
GeneIDi339834
KEGGihsa:339834
UCSCiuc003cwk.3, human [Q8IYA8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		339834
DisGeNETi339834

GeneCards: human genes, protein and diseases

More...GeneCardsi		IHO1
HGNCiHGNC:27945, IHO1
HPAiENSG00000173421, Tissue enriched (testis)
neXtProtiNX_Q8IYA8
OpenTargetsiENSG00000173421
PharmGKBiPA142672191
VEuPathDBiHostDB:ENSG00000173421.16

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502S0PR, Eukaryota
GeneTreeiENSGT00390000012418
HOGENOMiCLU_034910_0_0_1
InParanoidiQ8IYA8
OMAiEFIEMKS
OrthoDBi974040at2759
PhylomeDBiQ8IYA8
TreeFamiTF337135

Enzyme and pathway databases

PathwayCommonsiQ8IYA8

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		339834, 34 hits in 882 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		CCDC36, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		339834
PharosiQ8IYA8, Tdark

Protein Ontology

More...PROi		PR:Q8IYA8
RNActiQ8IYA8, protein

Gene expression databases

BgeeiENSG00000173421, Expressed in testis and 115 other tissues
GenevisibleiQ8IYA8, HS

Family and domain databases

InterProiView protein in InterPro
IPR031529, IHO1
PANTHERiPTHR35662, PTHR35662, 1 hit
PfamiView protein in Pfam
PF15771, IHO1, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiIHO1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8IYA8
Secondary accession number(s): C9JJL0, Q05DG9, Q96LP7
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: November 30, 2010
Last modified: February 10, 2021
This is version 131 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
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