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Entry version 119 (12 Aug 2020)
Sequence version 3 (20 Jan 2009)
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Protein

Protein FAM124B

Gene

FAM124B

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9H5Z6

<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:
Protein FAM124B
<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:FAM124B
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000124019.9

Human Gene Nomenclature Database

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HGNCi
HGNC:26224, FAM124B

Online Mendelian Inheritance in Man (OMIM)

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MIMi
618403, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H5Z6

<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

<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 - Cellular componenti

Nucleus

<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
79843

Open Targets

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OpenTargetsi
ENSG00000124019

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA162385815

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q9H5Z6, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
FAM124B

Domain mapping of disease mutations (DMDM)

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DMDMi
221222523

<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_00002863841 – 455Protein FAM124BAdd BLAST455

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 residuei49PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9H5Z6

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

More...
PaxDbi
Q9H5Z6

PeptideAtlas

More...
PeptideAtlasi
Q9H5Z6

PRoteomics IDEntifications database

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PRIDEi
Q9H5Z6

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
80943 [Q9H5Z6-1]
80944 [Q9H5Z6-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9H5Z6

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

More...
PhosphoSitePlusi
Q9H5Z6

<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
ENSG00000124019, Expressed in lung and 120 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9H5Z6, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000124019, Tissue enhanced (adipose tissue, blood)

<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 CHD7 and CHD8.

1 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

Q9H5Z6
With#Exp.IntAct
ADAMTSL4 - isoform 3 [Q6UY14-3]3EBI-741626,EBI-10173507
BIRC7 [Q96CA5]3EBI-741626,EBI-517623
CARD9 [Q9H257]3EBI-741626,EBI-751319
GOLGA2 [Q08379]3EBI-741626,EBI-618309
KCTD6 [Q8NC69]3EBI-741626,EBI-2511344
KCTD9 [Q7L273]3EBI-741626,EBI-4397613
KIAA1958 [Q8N8K9]3EBI-741626,EBI-10181113
KRT19 [P08727]3EBI-741626,EBI-742756
KRT31 [Q15323]3EBI-741626,EBI-948001
KRT40 [Q6A162]3EBI-741626,EBI-10171697
KRTAP10-7 [P60409]3EBI-741626,EBI-10172290
KRTAP10-9 [P60411]3EBI-741626,EBI-10172052
KRTAP5-9 [P26371]3EBI-741626,EBI-3958099
LZTS2 [Q9BRK4]3EBI-741626,EBI-741037
MDFI [Q99750]4EBI-741626,EBI-724076
MKRN3 [Q13064]3EBI-741626,EBI-2340269
NOTCH2NLA [Q7Z3S9]3EBI-741626,EBI-945833
RBPMS [Q93062]3EBI-741626,EBI-740322
RINT1 [Q6NUQ1]3EBI-741626,EBI-726876
SSX2IP [Q9Y2D8]3EBI-741626,EBI-2212028
TCF4 [P15884]3EBI-741626,EBI-533224
TLE5 [Q08117]3EBI-741626,EBI-717810
TRIM54 [Q9BYV2]3EBI-741626,EBI-2130429
USHBP1 [Q8N6Y0]3EBI-741626,EBI-739895
Isoform 2 [Q9H5Z6-2]
With#Exp.IntAct
ABI1 - isoform 5 [Q8IZP0-5]3EBI-11986315,EBI-11743294
ABI3 [Q9P2A4]3EBI-11986315,EBI-742038
BHLHB9 [Q6PI77]3EBI-11986315,EBI-11519926
BLZF1 [Q9H2G9]3EBI-11986315,EBI-2548012
CCDC153 - isoform 2 [Q494R4-2]3EBI-11986315,EBI-11974185
CCDC36 [Q8IYA8]3EBI-11986315,EBI-8638439
CYSRT1 [A8MQ03]3EBI-11986315,EBI-3867333
EFHC2 [Q5JST6]3EBI-11986315,EBI-2349927
ESM1 [Q9NQ30]3EBI-11986315,EBI-12260294
GIGYF1 [O75420]3EBI-11986315,EBI-947774
GKAP1 [Q5VSY0]3EBI-11986315,EBI-743722
GOLGA2 [Q08379]3EBI-11986315,EBI-618309
GPRASP2 [Q96D09]3EBI-11986315,EBI-473189
GRB7 - isoform 3 [Q14451-3]3EBI-11986315,EBI-11991632
HSF2BP [O75031]3EBI-11986315,EBI-7116203
IKZF3 [Q9UKT9]3EBI-11986315,EBI-747204
ISCA2 [Q86U28]3EBI-11986315,EBI-10258659
KRT31 [Q15323]3EBI-11986315,EBI-948001
KRTAP1-5 [Q9BYS1]3EBI-11986315,EBI-11741292
KRTAP9-3 [Q9BYQ3]3EBI-11986315,EBI-1043191
LHX3 - isoform B [Q9UBR4-2]3EBI-11986315,EBI-12039345
MBD3L1 [Q8WWY6]3EBI-11986315,EBI-12516603
MIPOL1 [Q8TD10]3EBI-11986315,EBI-2548751
MTUS2 - isoform 2 [Q5JR59-3]4EBI-11986315,EBI-11522433
MYF5 [P13349]3EBI-11986315,EBI-17491620
NADK [O95544]3EBI-11986315,EBI-743949
RSPH3 [Q86UC2]3EBI-11986315,EBI-6873025
SEPTIN14 [Q6ZU15]3EBI-11986315,EBI-2009297
SH2B2 - isoform 2 [O14492-2]3EBI-11986315,EBI-19952306
SP7 [Q8TDD2]3EBI-11986315,EBI-10713842
TLE5 - isoform 2 [Q08117-2]3EBI-11986315,EBI-11741437
TRAF2 [Q12933]3EBI-11986315,EBI-355744
TRIM42 [Q8IWZ5]3EBI-11986315,EBI-5235829
TRIM8 [Q9BZR9]3EBI-11986315,EBI-2340370
TRIM9 [Q9C026]3EBI-11986315,EBI-720828
USP54 - isoform 6 [Q70EL1-9]3EBI-11986315,EBI-11975223
WDR83 [Q9BRX9]3EBI-11986315,EBI-7705033
ZBED1 [O96006]3EBI-11986315,EBI-740037
ZNF69 - isoform 2 [Q9UC07-2]3EBI-11986315,EBI-12310821
ZNF774 [Q6NX45]3EBI-11986315,EBI-10251462
ZRANB1 [Q9UGI0]3EBI-11986315,EBI-527853

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
122934, 33 interactors

Protein interaction database and analysis system

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IntActi
Q9H5Z6, 68 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000386895

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9H5Z6, 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

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SMRi
Q9H5Z6

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

<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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502QUJG, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00590000083134

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_070689_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9H5Z6

Identification of Orthologs from Complete Genome Data

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OMAi
QHPPWQY

Database of Orthologous Groups

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OrthoDBi
626528at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9H5Z6

TreeFam database of animal gene trees

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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

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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%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 (2)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 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. 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: Q9H5Z6-1) [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
MDETQGPLAM TVHLLANSGH GSLLQRTLDQ LLDCICPEVR LFQVSERASP
60 70 80 90 100
VKYCEKSHSK RSRFPGMSVL LFLHESPGED RLFRVLDSLQ HSPWQCYPTQ
110 120 130 140 150
DTRGRLCPYF FANQEFYSLD SQLPIWGVRQ VHCGSEILRV TLYCSFDNYE
160 170 180 190 200
DAIRLYEMIL QREATLQKSN FCFFVLYASK SFALQLSLKQ LPPGMSVDPK
210 220 230 240 250
ESSVLQFKVQ EIGQLVPLLP NPCMPISSTR WQTQDYDGNK ILLQVQLNPE
260 270 280 290 300
LGVKNGILGA GMLPLGSRLT SVSAKRTSEP RSQRNQGKRS QGHSLELPEP
310 320 330 340 350
SGSPTSDRCA GTSWKSPGRS FQVSSPAMGA HLHLSSHHLE SGARMKVLNR
360 370 380 390 400
ENSFQKLEAE TNVDTGLTII NSEPRQTYFG GFPRDLQTSQ PPFCLPASSL
410 420 430 440 450
GVATSKNNSV LKERVSPLPL AGQRDLGTRK TISECLLHLQ VQGEEKEEDE

EEFFI
Length:455
Mass (Da):50,961
Last modified:January 20, 2009 - v3
<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:i730A6BE5893E6DE5
GO
Isoform 2 (identifier: Q9H5Z6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     245-272: VQLNPELGVKNGILGAGMLPLGSRLTSV → RWESSSVAQTRVRWCHHSSLRSSPSGFK
     273-455: Missing.

Show »
Length:272
Mass (Da):31,276
Checksum:i864E9B9C2C007413
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 BAB15471 differs from that shown. Reason: Frameshift.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 conflicti62 – 64SRF → YRL in BAB15471 (PubMed:14702039).Curated3
Sequence conflicti264P → S in BAB15471 (PubMed:14702039).Curated1
Sequence conflicti429R → G in BAB15471 (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_060151257I → T. Corresponds to variant dbSNP:rs3738954Ensembl.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_025042245 – 272VQLNP…RLTSV → RWESSSVAQTRVRWCHHSSL RSSPSGFK in isoform 2. 2 PublicationsAdd BLAST28
Alternative sequenceiVSP_025043273 – 455Missing in isoform 2. 2 PublicationsAdd BLAST183

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK026399 mRNA Translation: BAB15471.1 Frameshift.
AK075126 mRNA No translation available.
AC008072 Genomic DNA Translation: AAY14842.1
CH471063 Genomic DNA Translation: EAW70827.1
BC025754 mRNA Translation: AAH25754.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS2461.1 [Q9H5Z6-2]
CCDS46527.1 [Q9H5Z6-1]

NCBI Reference Sequences

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RefSeqi
NP_001116251.1, NM_001122779.1 [Q9H5Z6-1]
NP_079061.2, NM_024785.2 [Q9H5Z6-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000243806; ENSP00000243806; ENSG00000124019 [Q9H5Z6-2]
ENST00000389874; ENSP00000374524; ENSG00000124019 [Q9H5Z6-2]
ENST00000409685; ENSP00000386895; ENSG00000124019 [Q9H5Z6-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
79843

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:79843

UCSC genome browser

More...
UCSCi
uc002vnw.3, human [Q9H5Z6-1]

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
AK026399 mRNA Translation: BAB15471.1 Frameshift.
AK075126 mRNA No translation available.
AC008072 Genomic DNA Translation: AAY14842.1
CH471063 Genomic DNA Translation: EAW70827.1
BC025754 mRNA Translation: AAH25754.1
CCDSiCCDS2461.1 [Q9H5Z6-2]
CCDS46527.1 [Q9H5Z6-1]
RefSeqiNP_001116251.1, NM_001122779.1 [Q9H5Z6-1]
NP_079061.2, NM_024785.2 [Q9H5Z6-2]

3D structure databases

SMRiQ9H5Z6
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi122934, 33 interactors
IntActiQ9H5Z6, 68 interactors
STRINGi9606.ENSP00000386895

PTM databases

iPTMnetiQ9H5Z6
PhosphoSitePlusiQ9H5Z6

Polymorphism and mutation databases

BioMutaiFAM124B
DMDMi221222523

Proteomic databases

MassIVEiQ9H5Z6
PaxDbiQ9H5Z6
PeptideAtlasiQ9H5Z6
PRIDEiQ9H5Z6
ProteomicsDBi80943 [Q9H5Z6-1]
80944 [Q9H5Z6-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
47677, 62 antibodies

The DNASU plasmid repository

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DNASUi
79843

Genome annotation databases

EnsembliENST00000243806; ENSP00000243806; ENSG00000124019 [Q9H5Z6-2]
ENST00000389874; ENSP00000374524; ENSG00000124019 [Q9H5Z6-2]
ENST00000409685; ENSP00000386895; ENSG00000124019 [Q9H5Z6-1]
GeneIDi79843
KEGGihsa:79843
UCSCiuc002vnw.3, human [Q9H5Z6-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
79843
DisGeNETi79843
EuPathDBiHostDB:ENSG00000124019.9

GeneCards: human genes, protein and diseases

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GeneCardsi
FAM124B
HGNCiHGNC:26224, FAM124B
HPAiENSG00000124019, Tissue enhanced (adipose tissue, blood)
MIMi618403, gene
neXtProtiNX_Q9H5Z6
OpenTargetsiENSG00000124019
PharmGKBiPA162385815

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG502QUJG, Eukaryota
GeneTreeiENSGT00590000083134
HOGENOMiCLU_070689_0_0_1
InParanoidiQ9H5Z6
OMAiQHPPWQY
OrthoDBi626528at2759
PhylomeDBiQ9H5Z6
TreeFamiTF328699

Enzyme and pathway databases

PathwayCommonsiQ9H5Z6

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
79843, 21 hits in 874 CRISPR screens

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

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GenomeRNAii
79843
PharosiQ9H5Z6, Tdark

Protein Ontology

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PROi
PR:Q9H5Z6
RNActiQ9H5Z6, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000124019, Expressed in lung and 120 other tissues
GenevisibleiQ9H5Z6, 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

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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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 nameiF124B_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: Q9H5Z6
Secondary accession number(s): A6NNC7, Q8NBZ4, Q8TAV7
<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: May 1, 2007
Last sequence update: January 20, 2009
Last modified: August 12, 2020
This is version 119 of the entry and version 3 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
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