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Protein

Protein FAM124B

Gene

FAM124B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM124B
Gene namesi
Name:FAM124B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000124019.9.
HGNCiHGNC:26224. FAM124B.

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi79843.
OpenTargetsiENSG00000124019.
PharmGKBiPA162385815.

Polymorphism and mutation databases

BioMutaiFAM124B.
DMDMi221222523.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002863841 – 455Protein FAM124BAdd BLAST455

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei49PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9H5Z6.
PRIDEiQ9H5Z6.

PTM databases

iPTMnetiQ9H5Z6.
PhosphoSitePlusiQ9H5Z6.

Expressioni

Gene expression databases

BgeeiENSG00000124019.
CleanExiHS_FAM124B.
GenevisibleiQ9H5Z6. HS.

Organism-specific databases

HPAiHPA070240.

Interactioni

Subunit structurei

Interacts with CHD7 and CDH8.1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi122934. 32 interactors.
IntActiQ9H5Z6. 60 interactors.
MINTiMINT-1443571.
STRINGi9606.ENSP00000386895.

Structurei

3D structure databases

ProteinModelPortaliQ9H5Z6.
SMRiQ9H5Z6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FAM124 family.Curated

Phylogenomic databases

eggNOGiENOG410IIF9. Eukaryota.
ENOG410YA6D. LUCA.
GeneTreeiENSGT00590000083134.
HOGENOMiHOG000112435.
HOVERGENiHBG107864.
InParanoidiQ9H5Z6.
OMAiRWCHHSS.
OrthoDBiEOG091G0S9E.
PhylomeDBiQ9H5Z6.
TreeFamiTF328699.

Family and domain databases

InterProiView protein in InterPro
IPR029380. FAM124.
PANTHERiPTHR14715. PTHR14715. 1 hit.
PfamiView protein in Pfam
PF15067. FAM124. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H5Z6-1) [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
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
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

Sequence cautioni

The sequence BAB15471 differs from that shown. Reason: Frameshift at position 264.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Natural variantiVAR_060151257I → T. Corresponds to variant dbSNP:rs3738954Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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]
UniGeneiHs.147585.

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiF124B_HUMAN
AccessioniPrimary (citable) accession number: Q9H5Z6
Secondary accession number(s): A6NNC7, Q8NBZ4, Q8TAV7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: January 20, 2009
Last modified: September 27, 2017
This is version 100 of the entry and version 3 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families