Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - B1AJZ9 (FHAD1_HUMAN)

Entry version 93 (07 Apr 2021)
Sequence version 2 (02 Sep 2008)
Previous versions | rss
Add a publicationFeedback
Protein

Forkhead-associated domain-containing protein 1

Gene

FHAD1

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

Annotation score:2 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 transcript 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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		B1AJZ9

<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:
Forkhead-associated domain-containing protein 1
Short name:
FHA domain-containing protein 1
<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:FHAD1
Synonyms:KIAA1937
<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 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:29408, FHAD1

neXtProt; the human protein knowledge platform

More...neXtProti		NX_B1AJZ9

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000142621.19

<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		114827

Open Targets

More...OpenTargetsi		ENSG00000142621

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142671762

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		B1AJZ9, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		FHAD1

<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_00003493651 – 1412Forkhead-associated domain-containing protein 1Add BLAST1412

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		B1AJZ9

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		B1AJZ9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		B1AJZ9

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

More...PaxDbi		B1AJZ9

PeptideAtlas

More...PeptideAtlasi		B1AJZ9

PRoteomics IDEntifications database

More...PRIDEi		B1AJZ9

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		3005 [B1AJZ9-1]
3006 [B1AJZ9-3]
3007 [B1AJZ9-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		B1AJZ9

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

More...PhosphoSitePlusi		B1AJZ9

<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		ENSG00000142621, Expressed in testis and 138 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		B1AJZ9, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		B1AJZ9, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000142621, Tissue enhanced (brain, epididymis, fallopian tube, 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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		125377, 3 interactors

Protein interaction database and analysis system

More...IntActi		B1AJZ9, 2 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000351770

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		B1AJZ9, 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		B1AJZ9

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">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>Domaini18 – 69FHAPROSITE-ProRule annotationAdd BLAST52

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 coili250 – 466Sequence analysisAdd BLAST217
Coiled coili692 – 963Sequence analysisAdd BLAST272
Coiled coili999 – 1099Sequence analysisAdd BLAST101
Coiled coili1141 – 1169Sequence analysisAdd BLAST29
Coiled coili1292 – 1360Sequence analysisAdd BLAST69

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi98 – 160Pro-richAdd BLAST63

<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>Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QR8Q, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154171

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_005776_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		B1AJZ9

Identification of Orthologs from Complete Genome Data

More...OMAi		AQMCDIS

Database of Orthologous Groups

More...OrthoDBi		1273737at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		B1AJZ9

Family and domain databases

Conserved Domains Database

More...CDDi		cd00060, FHA, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000253, FHA_dom
IPR008984, SMAD_FHA_dom_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00498, FHA, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00240, FHA, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF49879, SSF49879, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50006, FHA_DOMAIN, 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

This entry has 3 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: B1AJZ9-1) [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
MKAYLKSAEG FFVLNKSTTI GRHENSDLVL QSPDIDNHHA LIEYNEAECS 
        60         70         80         90        100
FVLQDFNSRN GTFVNECHIQ NVAVKLIPGD ILRFGSAGLT YELVIENPPP 
       110        120        130        140        150
VSFPWMRGPA PWPGPQPPRA TQQPNQAPPP SHIPFHQGVQ PAPMQRSWSQ 
       160        170        180        190        200
AFPRPTVVLP ASHRRPVSAN KEMFSFVVDD ARKPPVIKQV WTNAMKLSEK 
       210        220        230        240        250
SVAEGIPGAV PPAEIYVEED LAQQDKDEII LLLGKEVSRL SDYEIESKYK 
       260        270        280        290        300
DVIIANLQNE VAELSQKVSE TTTSRQNEKE ISQKCQVLDE DIDAKQKEIQ 
       310        320        330        340        350
SLKSQISALQ KGYSKVLCQT LSERNSEITS LKNEGENLKR DNAITSGMVS 
       360        370        380        390        400
SLQKDILAKD EQVQQLKEEV SHLKSQNKDK DHQLEALGSR CSVLKEELKQ 
       410        420        430        440        450
EDAHRELREA QEKELKLCKT QIQDMEKEMK KLRAELRKSC TEQSVISRTL 
       460        470        480        490        500
REKSKVEEKL QEDSRRKLLQ LQEMGNRESV IKINLERAVG QLEHFRSQVI 
       510        520        530        540        550
KATYGRAKPF RDKPVTDQQL IEKITQVTED NINFQQKKWT LQKETQLSNS 
       560        570        580        590        600
KQEETTENIE KLRTSLDSCQ ACMKISCCSH DLKKEVDLLQ HLQVSPPVSG 
       610        620        630        640        650
LQKVVLDVLR HALSWLEEVE QLLRDLGILP SSPNKDQVQQ FSGNSAVFTA 
       660        670        680        690        700
GKAAGASGRE GEAERGEARA RGEAQSQNQA TDGREGGKAL EEYITQERNR 
       710        720        730        740        750
AKETLEEERK RMQELESLLA QQKKALAKSI TQEKNRVKEA LEEEQTRVQE 
       760        770        780        790        800
LEERLARQKE VLESSIAHEK RKAKEALESE KRKVQDLENH LTQQKEISES 
       810        820        830        840        850
NIAYEKRKAK EAMEKEKKKV QDLENRLTKQ KEELELKEQK EDVLNNKLSD 
       860        870        880        890        900
ALAMVEETQK TKATESLKAE SLALKLNETL AELETTKTKM IMVEERLILQ 
       910        920        930        940        950
QKMVKALQDE QESQRHGFEE EIMEYKEQIK QHAQTIVSLE EKLQKVTQHH 
       960        970        980        990       1000
KKIEGEIATL KDNDPAPKEE RPQDPLVAPM TESSAKDMAY EHLIDDLLAA 
      1010       1020       1030       1040       1050
QKEILSQQEV IMKLRKDLTE AHSRMSDLRG ELNEKQKMEL EQNVVLVQQQ 
      1060       1070       1080       1090       1100
SKELSVLKEK MAQMSSLVEK KDRELKALEE ALRASQEKHR LQLNTEKEQK 
      1110       1120       1130       1140       1150
PRKKTQTCDT SVQIEPVHTE AFSSSQEQQS FSDLGVRCKG SRHEEVIQRQ 
      1160       1170       1180       1190       1200
KKALSELRAR IKELEKARSP DHKDHQNESF LDLKNLRMEN NVQKILLDAK 
      1210       1220       1230       1240       1250
PDLPTLSRIE ILAPQNGLCN ARFGSAMEKS GKMDVAEALE LSEKLYLDMS 
      1260       1270       1280       1290       1300
KTLGSLMNIK NMSGHVSMKY LSRQEREKVN QLRQRDLDLV FDKITQLKNQ 
      1310       1320       1330       1340       1350
LGRKEELLRG YEKDVEQLRR SKVSIEMYQS QVAKLEDDIY KEAEEKALLK 
      1360       1370       1380       1390       1400
EALERMEHQL CQEKRINRAI RQQKVGTRKA SLKMDQEREM LRKETSSKSS 
      1410 
QSLLHSKPSG KY
Length:1,412
Mass (Da):161,904
Last modified:September 2, 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:i03BE058D84CF65AA
GO
Isoform 3 (identifier: B1AJZ9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1375-1412: VGTRKASLKM...LLHSKPSGKY → MRKLRLRELR...PAPPACSLNG

Show »
Length:1,453
Mass (Da):166,300
Checksum:iD2777F2598E6BD7F
GO
Isoform 4 (identifier: B1AJZ9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     758-793: Missing.

Show »
Length:1,376
Mass (Da):157,691
Checksum:i97F5422E0F939403
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5JYW6Q5JYW6_HUMAN
Forkhead-associated domain-containi...
FHAD1
647Annotation 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>
H0Y5P0H0Y5P0_HUMAN
Forkhead-associated domain-containi...
FHAD1
693Annotation 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>
H0YE38H0YE38_HUMAN
Forkhead-associated domain-containi...
FHAD1
701Annotation 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>
H0Y605H0Y605_HUMAN
Forkhead-associated domain-containi...
FHAD1
190Annotation 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>
H0YEU3H0YEU3_HUMAN
Forkhead-associated domain-containi...
FHAD1
120Annotation 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>
H0YCR1H0YCR1_HUMAN
Forkhead-associated domain-containi...
FHAD1
470Annotation 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>
H0Y3C6H0Y3C6_HUMAN
Forkhead-associated domain-containi...
FHAD1
316Annotation 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>
Q5JYW1Q5JYW1_HUMAN
Forkhead-associated domain-containi...
FHAD1
251Annotation 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>

<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 BAC04126 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAC04242 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAC04913 differs from that shown. Reason: Erroneous initiation.Curated

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 conflicti1004I → L in BAC04913 (PubMed:14702039).Curated1
Sequence conflicti1366I → V in BAC04913 (PubMed:14702039).Curated1

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_046372763E → K. Corresponds to variant dbSNP:rs12126178Ensembl.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_035366758 – 793Missing in isoform 4. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_0353691375 – 1412VGTRK…PSGKY → MRKLRLRELRGAQVHTAAGK DSWDLTPDPSDPGSPAVCRV GRKCRGARTEKRKRIDTLQL CLQRERQAGPAPPACSLNG in isoform 3. 1 PublicationAdd BLAST38

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
AL031283 Genomic DNA No translation available.
AL158174 Genomic DNA No translation available.
AL391094 Genomic DNA No translation available.
AK093300 mRNA Translation: BAC04126.1 Different initiation.
AK093883 mRNA Translation: BAC04242.1 Different initiation.
AK096961 mRNA Translation: BAC04913.1 Different initiation.

NCBI Reference Sequences

More...RefSeqi		NP_443161.1, NM_052929.1 [B1AJZ9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000358897; ENSP00000351770; ENSG00000142621 [B1AJZ9-1]
ENST00000375998; ENSP00000365166; ENSG00000142621 [B1AJZ9-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		114827

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:114827

UCSC genome browser

More...UCSCi		uc001awb.2, human [B1AJZ9-1]

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
AL031283 Genomic DNA No translation available.
AL158174 Genomic DNA No translation available.
AL391094 Genomic DNA No translation available.
AK093300 mRNA Translation: BAC04126.1 Different initiation.
AK093883 mRNA Translation: BAC04242.1 Different initiation.
AK096961 mRNA Translation: BAC04913.1 Different initiation.
RefSeqiNP_443161.1, NM_052929.1 [B1AJZ9-1]

3D structure databases

SMRiB1AJZ9
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi125377, 3 interactors
IntActiB1AJZ9, 2 interactors
STRINGi9606.ENSP00000351770

PTM databases

iPTMnetiB1AJZ9
PhosphoSitePlusiB1AJZ9

Genetic variation databases

BioMutaiFHAD1

Proteomic databases

EPDiB1AJZ9
jPOSTiB1AJZ9
MassIVEiB1AJZ9
PaxDbiB1AJZ9
PeptideAtlasiB1AJZ9
PRIDEiB1AJZ9
ProteomicsDBi3005 [B1AJZ9-1]
3006 [B1AJZ9-3]
3007 [B1AJZ9-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		63146, 92 antibodies

Genome annotation databases

EnsembliENST00000358897; ENSP00000351770; ENSG00000142621 [B1AJZ9-1]
ENST00000375998; ENSP00000365166; ENSG00000142621 [B1AJZ9-1]
GeneIDi114827
KEGGihsa:114827
UCSCiuc001awb.2, human [B1AJZ9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		114827
DisGeNETi114827

GeneCards: human genes, protein and diseases

More...GeneCardsi		FHAD1
HGNCiHGNC:29408, FHAD1
HPAiENSG00000142621, Tissue enhanced (brain, epididymis, fallopian tube, testis)
neXtProtiNX_B1AJZ9
OpenTargetsiENSG00000142621
PharmGKBiPA142671762
VEuPathDBiHostDB:ENSG00000142621.19

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QR8Q, Eukaryota
GeneTreeiENSGT00940000154171
HOGENOMiCLU_005776_0_0_1
InParanoidiB1AJZ9
OMAiAQMCDIS
OrthoDBi1273737at2759
PhylomeDBiB1AJZ9

Enzyme and pathway databases

PathwayCommonsiB1AJZ9

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		114827, 2 hits in 196 CRISPR screens

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

More...ChiTaRSi		FHAD1, human

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

More...GenomeRNAii		114827
PharosiB1AJZ9, Tdark

Protein Ontology

More...PROi		PR:B1AJZ9
RNActiB1AJZ9, protein

Gene expression databases

BgeeiENSG00000142621, Expressed in testis and 138 other tissues
ExpressionAtlasiB1AJZ9, baseline and differential
GenevisibleiB1AJZ9, HS

Family and domain databases

CDDicd00060, FHA, 1 hit
InterProiView protein in InterPro
IPR000253, FHA_dom
IPR008984, SMAD_FHA_dom_sf
PfamiView protein in Pfam
PF00498, FHA, 1 hit
SMARTiView protein in SMART
SM00240, FHA, 1 hit
SUPFAMiSSF49879, SSF49879, 1 hit
PROSITEiView protein in PROSITE
PS50006, FHA_DOMAIN, 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 nameiFHAD1_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: B1AJZ9
Secondary accession number(s): Q0P6F5
, Q8N8D3, Q8N9T6, Q8NA05
<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 2, 2008
Last sequence update: September 2, 2008
Last modified: April 7, 2021
This is version 93 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 1
    Human chromosome 1: 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again