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Entry version 119 (03 Jul 2019)
Sequence version 1 (01 Jun 2003)
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Protein

Protein FAM124A

Gene

FAM124A

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 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:
Protein FAM124A
<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:FAM124A
<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 13

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:26413 FAM124A

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q86V42

<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

Open Targets

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OpenTargetsi
ENSG00000150510

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162385800

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
FAM124A

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74750447

<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_00002863801 – 546Protein FAM124AAdd BLAST546

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q86V42

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q86V42

PeptideAtlas

More...
PeptideAtlasi
Q86V42

PRoteomics IDEntifications database

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PRIDEi
Q86V42

ProteomicsDB human proteome resource

More...
ProteomicsDBi
69963
69964 [Q86V42-2]
69965 [Q86V42-3]

Consortium for Top Down Proteomics

More...
TopDownProteomicsi
Q86V42-2 [Q86V42-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q86V42

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

More...
PhosphoSitePlusi
Q86V42

<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
ENSG00000150510 Expressed in 167 organ(s), highest expression level in corpus callosum

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q86V42 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA048182

<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_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
128629, 44 interactors

Protein interaction database and analysis system

More...
IntActi
Q86V42, 32 interactors

Molecular INTeraction database

More...
MINTi
Q86V42

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000280057

<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

<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 FAM124 family.Curated

Phylogenomic databases

Ensembl GeneTree

More...
GeneTreei
ENSGT00590000083134

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000112434

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q86V42

Identification of Orthologs from Complete Genome Data

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OMAi
QRVHKKF

Database of Orthologous Groups

More...
OrthoDBi
626528at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q86V42

TreeFam database of animal gene trees

More...
TreeFami
TF328699

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR029380 FAM124

The PANTHER Classification System

More...
PANTHERi
PTHR14715 PTHR14715, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15067 FAM124, 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>. 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_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 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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q86V42-1) [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
MDPKAGGGGE EDDCVDSGAE TGGSDYSHLS STSSELSVEE AQDPFLVSIH
60 70 80 90 100
IIADPGESQP LQEAIDNVLA WIHPDLPLFR VSERRASRRR RKPPKGAQPA
110 120 130 140 150
LAVVLFLQEE YGEEQILQLH RTLQQPPWRH HHTEQVHGRF LPYLPCSQDF
160 170 180 190 200
FTLAPGTPLW AIRPVHYGKE IVRFTVYCRY DNYADSLRFY QLILRRSPSQ
210 220 230 240 250
KKADFCIFPI FSNLDVDIQF SLKRLPCDQC PVPTDSSVLE FRVRDIGELV
260 270 280 290 300
PLLPNPCSPI SEGRWQTEDH DGNKILLQAQ RVHKKFPKPG RVHHASEKKR
310 320 330 340 350
HSTPLPSTAV PSHTPGSSQQ SPLNSPHPGP IRTGLPPGHQ QEFAGRANST
360 370 380 390 400
PNPPWSFQRS KSLFCLPTGG PSLASSAEPQ WFSNTGAPGH RASEWRHGHL
410 420 430 440 450
LSIDDLEGAQ ETDVDTGLRL SSSDLSVVSA YSAPSRFCST VETPLPSERC
460 470 480 490 500
SSHWAAHKDS REGPLPTVSR VTTEASWASL PFFTKRSSSS SATARAAPPA
510 520 530 540
PSTSTLTDSS PQLPCDTPKV KQTDGDMPPP PGSAGPGDND MEEFYI
Length:546
Mass (Da):60,104
Last modified:June 1, 2003 - v1
<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:i235FB80A4DF15FFC
GO
Isoform 2 (identifier: Q86V42-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     34-34: S → NGFSTWRMPCCLFLYCTHGDKEKGRWSLQVEHTWPSG

Note: No experimental confirmation available.
Show »
Length:582
Mass (Da):64,358
Checksum:i64B1FF0F35231C55
GO
Isoform 3 (identifier: Q86V42-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     279-301: AQRVHKKFPKPGRVHHASEKKRH → VLGGRLSVCLGDLRNQLALPQTL
     302-546: Missing.

Show »
Length:301
Mass (Da):34,005
Checksum:i6E0883EBBA1F9D27
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 AAH34497 differs from that shown. Reason: Frameshift at position 286.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 conflicti197S → N in BAC04769 (PubMed:14702039).Curated1
Sequence conflicti272G → R in BAB70894 (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_032098181D → H. Corresponds to variant dbSNP:rs17075482Ensembl.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_02503934S → NGFSTWRMPCCLFLYCTHGD KEKGRWSLQVEHTWPSG in isoform 2. 1 Publication1
Alternative sequenceiVSP_025040279 – 301AQRVH…EKKRH → VLGGRLSVCLGDLRNQLALP QTL in isoform 3. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_025041302 – 546Missing in isoform 3. 1 PublicationAdd BLAST245

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
AK055269 mRNA Translation: BAB70894.1
AK096364 mRNA Translation: BAC04769.1
AL157817 Genomic DNA No translation available.
BC034497 mRNA Translation: AAH34497.1 Frameshift.
BC051771 mRNA Translation: AAH51771.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS55900.1 [Q86V42-1]
CCDS81767.1 [Q86V42-3]
CCDS9427.1 [Q86V42-2]

NCBI Reference Sequences

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RefSeqi
NP_001229241.1, NM_001242312.1 [Q86V42-1]
NP_001317451.1, NM_001330522.1 [Q86V42-3]
NP_659456.3, NM_145019.3 [Q86V42-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000280057; ENSP00000280057; ENSG00000150510 [Q86V42-2]
ENST00000322475; ENSP00000324625; ENSG00000150510 [Q86V42-1]
ENST00000615498; ENSP00000481212; ENSG00000150510 [Q86V42-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
220108

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:220108

UCSC genome browser

More...
UCSCi
uc001vfe.4 human [Q86V42-1]

<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 - 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
AK055269 mRNA Translation: BAB70894.1
AK096364 mRNA Translation: BAC04769.1
AL157817 Genomic DNA No translation available.
BC034497 mRNA Translation: AAH34497.1 Frameshift.
BC051771 mRNA Translation: AAH51771.1
CCDSiCCDS55900.1 [Q86V42-1]
CCDS81767.1 [Q86V42-3]
CCDS9427.1 [Q86V42-2]
RefSeqiNP_001229241.1, NM_001242312.1 [Q86V42-1]
NP_001317451.1, NM_001330522.1 [Q86V42-3]
NP_659456.3, NM_145019.3 [Q86V42-2]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi128629, 44 interactors
IntActiQ86V42, 32 interactors
MINTiQ86V42
STRINGi9606.ENSP00000280057

PTM databases

iPTMnetiQ86V42
PhosphoSitePlusiQ86V42

Polymorphism and mutation databases

BioMutaiFAM124A
DMDMi74750447

Proteomic databases

EPDiQ86V42
jPOSTiQ86V42
PeptideAtlasiQ86V42
PRIDEiQ86V42
ProteomicsDBi69963
69964 [Q86V42-2]
69965 [Q86V42-3]
TopDownProteomicsiQ86V42-2 [Q86V42-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
220108
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000280057; ENSP00000280057; ENSG00000150510 [Q86V42-2]
ENST00000322475; ENSP00000324625; ENSG00000150510 [Q86V42-1]
ENST00000615498; ENSP00000481212; ENSG00000150510 [Q86V42-3]
GeneIDi220108
KEGGihsa:220108
UCSCiuc001vfe.4 human [Q86V42-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
220108

GeneCards: human genes, protein and diseases

More...
GeneCardsi
FAM124A
HGNCiHGNC:26413 FAM124A
HPAiHPA048182
neXtProtiNX_Q86V42
OpenTargetsiENSG00000150510
PharmGKBiPA162385800

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00590000083134
HOGENOMiHOG000112434
InParanoidiQ86V42
OMAiQRVHKKF
OrthoDBi626528at2759
PhylomeDBiQ86V42
TreeFamiTF328699

Miscellaneous databases

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

More...
ChiTaRSi
FAM124A human

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

More...
GenomeRNAii
220108

Protein Ontology

More...
PROi
PR:Q86V42

Gene expression databases

BgeeiENSG00000150510 Expressed in 167 organ(s), highest expression level in corpus callosum
GenevisibleiQ86V42 HS

Family and domain databases

InterProiView protein in InterPro
IPR029380 FAM124
PANTHERiPTHR14715 PTHR14715, 1 hit
PfamiView protein in Pfam
PF15067 FAM124, 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 nameiF124A_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: Q86V42
Secondary accession number(s): A2A324
, Q8N8P9, Q8NE66, Q96NJ9
<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: May 1, 2007
Last sequence update: June 1, 2003
Last modified: July 3, 2019
This is version 119 of the entry and version 1 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. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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