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Entry version 111 (08 May 2019)
Sequence version 2 (23 Sep 2008)
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Protein

Probable ATP-dependent DNA helicase HFM1

Gene

HFM1

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

Annotation score:4 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 crossover formation and complete synapsis of homologous chromosomes during meiosis.By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi303 – 310ATPPROSITE-ProRule annotation8

<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 - Molecular functioni

GO - Biological processi

<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

Molecular functionHelicase, Hydrolase
Biological processMeiosis
LigandATP-binding, Nucleotide-binding

<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_and_taxonomy_section">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:
Probable ATP-dependent DNA helicase HFM1 (EC:3.6.4.12)
Alternative name(s):
SEC63 domain-containing protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:HFM1
Synonyms:SEC3D1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 1

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:20193 HFM1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
615684 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_A2PYH4

<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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Premature ovarian failure 9 (POF9)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionAn ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.
See also OMIM:615724
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_071262736G → S in POF9. 1 PublicationCorresponds to variant dbSNP:rs587777269EnsemblClinVar.1
Natural variantiVAR_071263884I → S in POF9. 1 PublicationCorresponds to variant dbSNP:rs587777268EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Premature ovarian failure

Organism-specific databases

DisGeNET

More...
DisGeNETi
164045

MalaCards human disease database

More...
MalaCardsi
HFM1
MIMi615724 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000162669

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
619 NON RARE IN EUROPE: Primary ovarian failure

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671690

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HFM1

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003243931 – 1435Probable ATP-dependent DNA helicase HFM1Add BLAST1435

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
A2PYH4

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
A2PYH4

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

More...
PaxDbi
A2PYH4

PRoteomics IDEntifications database

More...
PRIDEi
A2PYH4

ProteomicsDB human proteome resource

More...
ProteomicsDBi
456
457 [A2PYH4-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
A2PYH4

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

More...
PhosphoSitePlusi
A2PYH4

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Preferentially expressed in testis and ovary.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000162669 Expressed in 90 organ(s), highest expression level in pituitary gland

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
A2PYH4 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
A2PYH4 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA035036
HPA035557

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
127886, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000359454

<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

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SMRi
A2PYH4

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini290 – 478Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST189
Domaini519 – 720Helicase C-terminalPROSITE-ProRule annotationAdd BLAST202
Domaini777 – 1092SEC63Add BLAST316

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi411 – 414DEAH box4

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the helicase family. SKI2 subfamily.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0952 Eukaryota
COG1204 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00550000074822

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000293238

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
A2PYH4

KEGG Orthology (KO)

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KOi
K15271

Identification of Orthologs from Complete Genome Data

More...
OMAi
CKNKHTC

Database of Orthologous Groups

More...
OrthoDBi
154891at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
A2PYH4

TreeFam database of animal gene trees

More...
TreeFami
TF328936

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00079 HELICc, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011545 DEAD/DEAH_box_helicase_dom
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR004179 Sec63-dom
IPR036390 WH_DNA-bd_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00270 DEAD, 1 hit
PF00271 Helicase_C, 1 hit
PF02889 Sec63, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SM00973 Sec63, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF46785 SSF46785, 1 hit
SSF52540 SSF52540, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 2 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: A2PYH4-1) [UniParc]FASTAAdd to basket

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
MLKSNDCLFS LENLFFEKPD EVENHPDNEK SLDWFLPPAP LISEIPDTQE
60 70 80 90 100
LEEELESHKL LGQEKRPKML TSNLKITNED TNYISLTQKF QFAFPSDKYE
110 120 130 140 150
QDDLNLEGVG NNDLSHIAGK LTYASQKYKN HIGTEIAPEK SVPDDTKLVN
160 170 180 190 200
FAEDKGESTS VFRKRLFKIS DNIHGSAYSN DNELDSHIGS VKIVQTEMNK
210 220 230 240 250
GKSRNYSNSK QKFQYSANVF TANNAFSASE IGEGMFKAPS FSVAFQPHDI
260 270 280 290 300
QEVTENGLGS LKAVTEIPAK FRSIFKEFPY FNYIQSKAFD DLLYTDRNFV
310 320 330 340 350
ICAPTGSGKT VVFELAITRL LMEVPLPWLN IKIVYMAPIK ALCSQRFDDW
360 370 380 390 400
KEKFGPIGLN CKELTGDTVM DDLFEIQHAH IIMTTPEKWD SMTRKWRDNS
410 420 430 440 450
LVQLVRLFLI DEVHIVKDEN RGPTLEVVVS RMKTVQSVSQ TLKNTSTAIP
460 470 480 490 500
MRFVAVSATI PNAEDIAEWL SDGERPAVCL KMDESHRPVK LQKVVLGFPC
510 520 530 540 550
SSNQTEFKFD LTLNYKIASV IQMYSDQKPT LVFCATRKGV QQAASVLVKD
560 570 580 590 600
AKFIMTVEQK QRLQKYAYSV RDSKLRDILK DGAAYHHAGM ELSDRKVVEG
610 620 630 640 650
AFTVGDLPVL FTTSTLAMGV NLPAHLVVIK STMHYAGGLF EEYSETDILQ
660 670 680 690 700
MIGRAGRPQF DTTATAVIMT RLSTRDKYIQ MLACRDTVES SLHRHLIEHL
710 720 730 740 750
NAEIVLHTIT DVNIAVEWIR STLLYIRALK NPSHYGFASG LNKDGIEAKL
760 770 780 790 800
QELCLKNLND LSSLDLIKMD EGVNFKPTEA GRLMAWYYIT FETVKKFYTI
810 820 830 840 850
SGKETLSDLV TLIAGCKEFL DIQLRINEKK TLNTLNKDPN RITIRFPMEG
860 870 880 890 900
RIKTREMKVN CLIQAQLGCI PIQDFALTQD TAKIFRHGSR ITRWLSDFVA
910 920 930 940 950
AQEKKFAVLL NSLILAKCFR CKLWENSLHV SKQLEKIGIT LSNAIVNAGL
960 970 980 990 1000
TSFKKIEETD ARELELILNR HPPFGTQIKE TVMYLPKYEL KVEQITRYSD
1010 1020 1030 1040 1050
TTAEILVTVI LRNFEQLQTK RTASDSHYVT LIIGDADNQV VYLHKITDSV
1060 1070 1080 1090 1100
LLKAGSWAKK IAVKRALKSE DLSINLISSE FVGLDIQQKL TVFYLEPKRF
1110 1120 1130 1140 1150
GNQITMQRKS ETQISHSKHS DISTIAGPNK GTTASKKPGN RECNHLCKSK
1160 1170 1180 1190 1200
HTCGHDCCKI GVAQKSEIKE STISSYLSDL RNRNAVSSVP PVKRLKIQMN
1210 1220 1230 1240 1250
KSQSVDLKEF GFTPKPSLPS ISRSEYLNIS ELPIMEQWDQ PEIYGKVRQE
1260 1270 1280 1290 1300
PSEYQDKEVL NVNFELGNEV WDDFDDENLE VTSFSTDTEK TKISGFGNTL
1310 1320 1330 1340 1350
SSSTRGSKLP LQESKSKFQR EMSNSFVSSH EMSDISLSNS AMPKFSASSM
1360 1370 1380 1390 1400
TKLPQQAGNA VIVHFQERKP QNLSPEIEKQ CFTFSEKNPN SSNYKKVDFF
1410 1420 1430
IRNSECKKEV DFSMYHPDDE ADEMKSLLGI FDGIF
Length:1,435
Mass (Da):162,610
Last modified:September 23, 2008 - 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:i9FEFDF74FB990741
GO
Isoform 2 (identifier: A2PYH4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-768: Missing.
     1295-1418: GFGNTLSSST...EVDFSMYHPD → VLFHHMRCRIFLYQILLCPSSVHPP
     1419-1435: Missing.

Show »
Length:551
Mass (Da):62,941
Checksum:iEB4D2B51176782DC
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y3X7H0Y3X7_HUMAN
Probable ATP-dependent DNA helicase...
HFM1
625Annotation score:

Annotation score:1 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>
C9JQ07C9JQ07_HUMAN
Probable ATP-dependent DNA helicase...
HFM1
196Annotation score:

Annotation score:1 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>
C9JQP7C9JQP7_HUMAN
Probable ATP-dependent DNA helicase...
HFM1
138Annotation score:

Annotation score:1 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>
C9JA44C9JA44_HUMAN
Probable ATP-dependent DNA helicase...
HFM1
151Annotation score:

Annotation score:1 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 Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti408F → L in BAF45466 (PubMed:17286053).Curated1
Sequence conflicti684C → Y in BAF45466 (PubMed:17286053).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_039799115S → P1 PublicationCorresponds to variant dbSNP:rs11165778Ensembl.1
Natural variantiVAR_039800117I → V1 PublicationCorresponds to variant dbSNP:rs282009Ensembl.1
Natural variantiVAR_071262736G → S in POF9. 1 PublicationCorresponds to variant dbSNP:rs587777269EnsemblClinVar.1
Natural variantiVAR_071263884I → S in POF9. 1 PublicationCorresponds to variant dbSNP:rs587777268EnsemblClinVar.1
Natural variantiVAR_049338939I → V. Corresponds to variant dbSNP:rs11584478Ensembl.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_0322491 – 768Missing in isoform 2. 1 PublicationAdd BLAST768
Alternative sequenceiVSP_0322501295 – 1418GFGNT…MYHPD → VLFHHMRCRIFLYQILLCPS SVHPP in isoform 2. 1 PublicationAdd BLAST124
Alternative sequenceiVSP_0322511419 – 1435Missing in isoform 2. 1 PublicationAdd BLAST17

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB204867 mRNA Translation: BAF45466.1
AK094079 mRNA Translation: BAC04281.1
AC098691 Genomic DNA No translation available.
BX323048 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS30769.2 [A2PYH4-1]

NCBI Reference Sequences

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RefSeqi
NP_001017975.4, NM_001017975.4
XP_011539151.1, XM_011540849.1 [A2PYH4-1]
XP_011539152.1, XM_011540850.2 [A2PYH4-1]
XP_011539153.1, XM_011540851.1 [A2PYH4-1]
XP_011539154.1, XM_011540852.2 [A2PYH4-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000370425; ENSP00000359454; ENSG00000162669 [A2PYH4-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
164045

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:164045

UCSC genome browser

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UCSCi
uc001doa.4 human [A2PYH4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AB204867 mRNA Translation: BAF45466.1
AK094079 mRNA Translation: BAC04281.1
AC098691 Genomic DNA No translation available.
BX323048 Genomic DNA No translation available.
CCDSiCCDS30769.2 [A2PYH4-1]
RefSeqiNP_001017975.4, NM_001017975.4
XP_011539151.1, XM_011540849.1 [A2PYH4-1]
XP_011539152.1, XM_011540850.2 [A2PYH4-1]
XP_011539153.1, XM_011540851.1 [A2PYH4-1]
XP_011539154.1, XM_011540852.2 [A2PYH4-1]

3D structure databases

SMRiA2PYH4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127886, 2 interactors
STRINGi9606.ENSP00000359454

PTM databases

iPTMnetiA2PYH4
PhosphoSitePlusiA2PYH4

Polymorphism and mutation databases

BioMutaiHFM1

Proteomic databases

EPDiA2PYH4
jPOSTiA2PYH4
PaxDbiA2PYH4
PRIDEiA2PYH4
ProteomicsDBi456
457 [A2PYH4-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000370425; ENSP00000359454; ENSG00000162669 [A2PYH4-1]
GeneIDi164045
KEGGihsa:164045
UCSCiuc001doa.4 human [A2PYH4-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
164045
DisGeNETi164045

GeneCards: human genes, protein and diseases

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GeneCardsi
HFM1
HGNCiHGNC:20193 HFM1
HPAiHPA035036
HPA035557
MalaCardsiHFM1
MIMi615684 gene
615724 phenotype
neXtProtiNX_A2PYH4
OpenTargetsiENSG00000162669
Orphaneti619 NON RARE IN EUROPE: Primary ovarian failure
PharmGKBiPA142671690

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0952 Eukaryota
COG1204 LUCA
GeneTreeiENSGT00550000074822
HOGENOMiHOG000293238
InParanoidiA2PYH4
KOiK15271
OMAiCKNKHTC
OrthoDBi154891at2759
PhylomeDBiA2PYH4
TreeFamiTF328936

Miscellaneous databases

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

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ChiTaRSi
HFM1 human

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

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GenomeRNAii
164045

Protein Ontology

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PROi
PR:A2PYH4

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000162669 Expressed in 90 organ(s), highest expression level in pituitary gland
ExpressionAtlasiA2PYH4 baseline and differential
GenevisibleiA2PYH4 HS

Family and domain databases

CDDicd00079 HELICc, 1 hit
InterProiView protein in InterPro
IPR011545 DEAD/DEAH_box_helicase_dom
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR004179 Sec63-dom
IPR036390 WH_DNA-bd_sf
PfamiView protein in Pfam
PF00270 DEAD, 1 hit
PF00271 Helicase_C, 1 hit
PF02889 Sec63, 1 hit
SMARTiView protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SM00973 Sec63, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
SSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<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 nameiHFM1_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: A2PYH4
Secondary accession number(s): B1B0B6, Q8N9Q0
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: September 23, 2008
Last modified: May 8, 2019
This is version 111 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

Complete proteome, Reference proteome

Documents

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