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Protein

Protein FAM124A

Gene

FAM124A

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

Organism-specific databases

HGNCiHGNC:26413. FAM124A.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162385800.

Polymorphism and mutation databases

BioMutaiFAM124A.
DMDMi74750447.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 546546Protein FAM124APRO_0000286380Add
BLAST

Proteomic databases

PRIDEiQ86V42.
TopDownProteomicsiQ86V42-2. [Q86V42-2]

PTM databases

iPTMnetiQ86V42.
PhosphoSiteiQ86V42.

Expressioni

Gene expression databases

BgeeiQ86V42.
CleanExiHS_FAM124A.
ExpressionAtlasiQ86V42. baseline and differential.
GenevisibleiQ86V42. HS.

Organism-specific databases

HPAiHPA048182.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
AESQ081173EBI-744506,EBI-717810
CCDC36Q8IYA83EBI-744506,EBI-8638439
CEP70Q8NHQ13EBI-744506,EBI-739624
CGGBP1Q9UFW83EBI-744506,EBI-723153
DOCK8Q8NF50-23EBI-744506,EBI-10174653
FOXP2O154093EBI-744506,EBI-983612
INO80EQ8NBZ03EBI-744506,EBI-769401
KIFC3Q9BVG83EBI-744506,EBI-2125614
LNX1Q8TBB13EBI-744506,EBI-739832
PHC2Q8IXK03EBI-744506,EBI-713786
PRKG1Q139763EBI-744506,EBI-3952014
RAB3IPQ96QF03EBI-744506,EBI-747844
ROCK1Q134643EBI-744506,EBI-876651
SAXO1Q8IYX73EBI-744506,EBI-3957636
STAC3Q96MF23EBI-744506,EBI-745680
THAP1Q9NVV93EBI-744506,EBI-741515
TRIM41Q8WV443EBI-744506,EBI-725997
TRIM54Q9BYV23EBI-744506,EBI-2130429
ZBTB44Q8NCP53EBI-744506,EBI-5658292
ZFP64Q9NPA53EBI-744506,EBI-711679
ZFP64Q9NTW73EBI-744506,EBI-745730
ZNF165Q53Z403EBI-744506,EBI-10186058
ZNF250P15622-33EBI-744506,EBI-10177272
ZZZ3Q8IYH53EBI-744506,EBI-2795524

Protein-protein interaction databases

BioGridi128629. 28 interactions.
IntActiQ86V42. 30 interactions.
MINTiMINT-1452991.

Structurei

3D structure databases

ProteinModelPortaliQ86V42.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FAM124 family.Curated

Phylogenomic databases

GeneTreeiENSGT00590000083134.
HOGENOMiHOG000112434.
HOVERGENiHBG098044.
InParanoidiQ86V42.
OMAiFCLPTGG.
OrthoDBiEOG7T1RBN.
PhylomeDBiQ86V42.
TreeFamiTF328699.

Family and domain databases

InterProiIPR029380. FAM124.
[Graphical view]
PfamiPF15067. FAM124. 1 hit.
[Graphical view]

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 AAH34497.1 differs from that shown. Reason: Frameshift at position 286. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti197 – 1971S → N in BAC04769 (PubMed:14702039).Curated
Sequence conflicti272 – 2721G → R in BAB70894 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti181 – 1811D → H.
Corresponds to variant rs17075482 [ dbSNP | Ensembl ].
VAR_032098

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei34 – 341S → NGFSTWRMPCCLFLYCTHGD KEKGRWSLQVEHTWPSG in isoform 2. 1 PublicationVSP_025039
Alternative sequencei279 – 30123AQRVH…EKKRH → VLGGRLSVCLGDLRNQLALP QTL in isoform 3. 1 PublicationVSP_025040Add
BLAST
Alternative sequencei302 – 546245Missing in isoform 3. 1 PublicationVSP_025041Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK055269 mRNA. Translation: BAB70894.1.
AK096364 mRNA. Translation: BAC04769.1.
AL157817 Genomic DNA. Translation: CAI14260.1.
AL157817 Genomic DNA. Translation: CAM20007.1.
BC034497 mRNA. Translation: AAH34497.1. Frameshift.
BC051771 mRNA. Translation: AAH51771.1.
CCDSiCCDS55900.1. [Q86V42-1]
CCDS9427.1. [Q86V42-2]
RefSeqiNP_001229241.1. NM_001242312.1. [Q86V42-1]
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

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. Translation: CAI14260.1.
AL157817 Genomic DNA. Translation: CAM20007.1.
BC034497 mRNA. Translation: AAH34497.1. Frameshift.
BC051771 mRNA. Translation: AAH51771.1.
CCDSiCCDS55900.1. [Q86V42-1]
CCDS9427.1. [Q86V42-2]
RefSeqiNP_001229241.1. NM_001242312.1. [Q86V42-1]
NP_659456.3. NM_145019.3. [Q86V42-2]
UniGeneiHs.71913.
Hs.737490.

3D structure databases

ProteinModelPortaliQ86V42.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128629. 28 interactions.
IntActiQ86V42. 30 interactions.
MINTiMINT-1452991.

PTM databases

iPTMnetiQ86V42.
PhosphoSiteiQ86V42.

Polymorphism and mutation databases

BioMutaiFAM124A.
DMDMi74750447.

Proteomic databases

PRIDEiQ86V42.
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.
GeneCardsiFAM124A.
HGNCiHGNC:26413. FAM124A.
HPAiHPA048182.
neXtProtiNX_Q86V42.
PharmGKBiPA162385800.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00590000083134.
HOGENOMiHOG000112434.
HOVERGENiHBG098044.
InParanoidiQ86V42.
OMAiFCLPTGG.
OrthoDBiEOG7T1RBN.
PhylomeDBiQ86V42.
TreeFamiTF328699.

Miscellaneous databases

GenomeRNAii220108.
PROiQ86V42.

Gene expression databases

BgeeiQ86V42.
CleanExiHS_FAM124A.
ExpressionAtlasiQ86V42. baseline and differential.
GenevisibleiQ86V42. HS.

Family and domain databases

InterProiIPR029380. FAM124.
[Graphical view]
PfamiPF15067. FAM124. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Fetal brain and Teratocarcinoma.
  2. "The DNA sequence and analysis of human chromosome 13."
    Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
    Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
    Tissue: Ovary and Testis.

Entry informationi

Entry nameiF124A_HUMAN
AccessioniPrimary (citable) accession number: Q86V42
Secondary accession number(s): A2A324
, Q8N8P9, Q8NE66, Q96NJ9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: June 1, 2003
Last modified: June 8, 2016
This is version 94 of the entry and version 1 of the sequence. [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 13
    Human chromosome 13: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.