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Protein

Protein FAM124A

Gene

FAM124A

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

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM124A
Gene namesi
Name:FAM124A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000150510.15
HGNCiHGNC:26413 FAM124A
neXtProtiNX_Q86V42

Pathology & Biotechi

Organism-specific databases

DisGeNETi220108
OpenTargetsiENSG00000150510
PharmGKBiPA162385800

Polymorphism and mutation databases

BioMutaiFAM124A
DMDMi74750447

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002863801 – 546Protein FAM124AAdd BLAST546

Proteomic databases

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

PTM databases

iPTMnetiQ86V42
PhosphoSitePlusiQ86V42

Expressioni

Gene expression databases

BgeeiENSG00000150510 Expressed in 167 organ(s), highest expression level in corpus callosum
CleanExiHS_FAM124A
GenevisibleiQ86V42 HS

Organism-specific databases

HPAiHPA048182

Interactioni

Binary interactionsi

Protein-protein interaction databases

BioGridi128629, 44 interactors
IntActiQ86V42, 33 interactors
MINTiQ86V42

Structurei

3D structure databases

ProteinModelPortaliQ86V42
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FAM124 family.Curated

Phylogenomic databases

GeneTreeiENSGT00590000083134
HOGENOMiHOG000112434
HOVERGENiHBG098044
InParanoidiQ86V42
OMAiQRVHKKF
OrthoDBiEOG091G0S9E
PhylomeDBiQ86V42
TreeFamiTF328699

Family and domain databases

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

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q86V42-1) [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
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
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

Sequence cautioni

The sequence AAH34497 differs from that shown. Reason: Frameshift at position 286.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti197S → N in BAC04769 (PubMed:14702039).Curated1
Sequence conflicti272G → R in BAB70894 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032098181D → H. Corresponds to variant dbSNP:rs17075482Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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]
UniGeneiHs.71913
Hs.737490

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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]
UniGeneiHs.71913
Hs.737490

3D structure databases

ProteinModelPortaliQ86V42
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128629, 44 interactors
IntActiQ86V42, 33 interactors
MINTiQ86V42

PTM databases

iPTMnetiQ86V42
PhosphoSitePlusiQ86V42

Polymorphism and mutation databases

BioMutaiFAM124A
DMDMi74750447

Proteomic databases

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

Protocols and materials databases

DNASUi220108
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

CTDi220108
DisGeNETi220108
EuPathDBiHostDB:ENSG00000150510.15
GeneCardsiFAM124A
HGNCiHGNC:26413 FAM124A
HPAiHPA048182
neXtProtiNX_Q86V42
OpenTargetsiENSG00000150510
PharmGKBiPA162385800
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00590000083134
HOGENOMiHOG000112434
HOVERGENiHBG098044
InParanoidiQ86V42
OMAiQRVHKKF
OrthoDBiEOG091G0S9E
PhylomeDBiQ86V42
TreeFamiTF328699

Miscellaneous databases

ChiTaRSiFAM124A human
GenomeRNAii220108
PROiPR:Q86V42

Gene expression databases

BgeeiENSG00000150510 Expressed in 167 organ(s), highest expression level in corpus callosum
CleanExiHS_FAM124A
GenevisibleiQ86V42 HS

Family and domain databases

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

Entry informationi

Entry nameiF124A_HUMAN
AccessioniPrimary (citable) accession number: Q86V42
Secondary accession number(s): A2A324
, Q8N8P9, Q8NE66, Q96NJ9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: June 1, 2003
Last modified: November 7, 2018
This is version 114 of the entry and version 1 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
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