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Q14320

- FA50A_HUMAN

UniProt

Q14320 - FA50A_HUMAN

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Protein
Protein FAM50A
Gene
FAM50A, DXS9928E, HXC26, XAP5
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

Functioni

May be a DNA-binding protein or transcriptional factor.1 Publication

GO - Molecular functioni

  1. poly(A) RNA binding Source: UniProtKB

GO - Biological processi

  1. spermatogenesis Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM50A
Alternative name(s):
Protein HXC-26
Protein XAP-5
Gene namesi
Name:FAM50A
Synonyms:DXS9928E, HXC26, XAP5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:18786. FAM50A.

Subcellular locationi

Nucleus Reviewed prediction

GO - Cellular componenti

  1. nucleus Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134984709.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 339338Protein FAM50A
PRO_0000068284Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ14320.
PaxDbiQ14320.
PeptideAtlasiQ14320.
PRIDEiQ14320.

PTM databases

PhosphoSiteiQ14320.

Expressioni

Tissue specificityi

Expressed in all tissues examined. Mostly abundant in fetal brain, liver and kidney; in the adult, high levels were also observed in heart, skeletal muscle, spleen, thymus, prostate and small intestine.1 Publication

Gene expression databases

ArrayExpressiQ14320.
BgeeiQ14320.
CleanExiHS_FAM50A.
GenevestigatoriQ14320.

Organism-specific databases

HPAiHPA003585.

Interactioni

Protein-protein interaction databases

BioGridi114578. 4 interactions.
IntActiQ14320. 1 interaction.
MINTiMINT-3029323.
STRINGi9606.ENSP00000377225.

Structurei

3D structure databases

ProteinModelPortaliQ14320.

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi152 – 1554Nuclear localization signal Reviewed prediction

Sequence similaritiesi

Belongs to the FAM50 family.

Phylogenomic databases

eggNOGiNOG252249.
HOGENOMiHOG000283611.
HOVERGENiHBG000678.
InParanoidiQ14320.
KOiK13119.
OMAiVMADQLM.
PhylomeDBiQ14320.
TreeFamiTF314738.

Family and domain databases

InterProiIPR007005. XAP5.
[Graphical view]
PANTHERiPTHR12722. PTHR12722. 1 hit.
PfamiPF04921. XAP5. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q14320-1 [UniParc]FASTAAdd to Basket

« Hide

MAQYKGAASE AGRAMHLMKK REKQREQMEQ MKQRIAEENI MKSNIDKKFS    50
AHYDAVEAEL KSSTVGLVTL NDMKAKQEAL VKEREKQLAK KEQSKELQMK 100
LEKLREKERK KEAKRKISSL SFTLEEEEEG GEEEEEAAMY EEEMEREEIT 150
TKKRKLGKNP DVDTSFLPDR DREEEENRLR EELRQEWEAK QEKIKSEEIE 200
ITFSYWDGSG HRRTVKMRKG NTMQQFLQKA LEILRKDFSE LRSAGVEQLM 250
YIKEDLIIPH HHSFYDFIVT KARGKSGPLF NFDVHDDVRL LSDATVEKDE 300
SHAGKVVLRS WYEKNKHIFP ASRWEPYDPE KKWDKYTIR 339
Length:339
Mass (Da):40,242
Last modified:January 11, 2001 - v2
Checksum:i88BCA57E49B0AA32
GO

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti166 – 1661F → S in BAF85808. 1 Publication
Sequence conflicti330 – 3301E → G in BAF85808. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AD001530 mRNA. Translation: AAB81663.1.
AK293119 mRNA. Translation: BAF85808.1.
AK313697 mRNA. Translation: BAG36444.1.
BX936365 Genomic DNA. Translation: CAI43193.1.
CH471172 Genomic DNA. Translation: EAW72708.1.
BC000028 mRNA. Translation: AAH00028.1.
BC015499 mRNA. Translation: AAH15499.1.
D83389 Genomic DNA. Translation: BAA11907.1.
D83260 mRNA. Translation: BAA11871.1.
L44140 Genomic DNA. Translation: AAA92649.1.
CCDSiCCDS14751.1.
PIRiJC5276.
RefSeqiNP_004690.1. NM_004699.3.
UniGeneiHs.54277.

Genome annotation databases

EnsembliENST00000393600; ENSP00000377225; ENSG00000071859.
ENST00000596978; ENSP00000470975; ENSG00000269645.
GeneIDi9130.
KEGGihsa:9130.
UCSCiuc004fll.4. human.

Polymorphism databases

DMDMi12231058.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AD001530 mRNA. Translation: AAB81663.1 .
AK293119 mRNA. Translation: BAF85808.1 .
AK313697 mRNA. Translation: BAG36444.1 .
BX936365 Genomic DNA. Translation: CAI43193.1 .
CH471172 Genomic DNA. Translation: EAW72708.1 .
BC000028 mRNA. Translation: AAH00028.1 .
BC015499 mRNA. Translation: AAH15499.1 .
D83389 Genomic DNA. Translation: BAA11907.1 .
D83260 mRNA. Translation: BAA11871.1 .
L44140 Genomic DNA. Translation: AAA92649.1 .
CCDSi CCDS14751.1.
PIRi JC5276.
RefSeqi NP_004690.1. NM_004699.3.
UniGenei Hs.54277.

3D structure databases

ProteinModelPortali Q14320.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114578. 4 interactions.
IntActi Q14320. 1 interaction.
MINTi MINT-3029323.
STRINGi 9606.ENSP00000377225.

PTM databases

PhosphoSitei Q14320.

Polymorphism databases

DMDMi 12231058.

Proteomic databases

MaxQBi Q14320.
PaxDbi Q14320.
PeptideAtlasi Q14320.
PRIDEi Q14320.

Protocols and materials databases

DNASUi 9130.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000393600 ; ENSP00000377225 ; ENSG00000071859 .
ENST00000596978 ; ENSP00000470975 ; ENSG00000269645 .
GeneIDi 9130.
KEGGi hsa:9130.
UCSCi uc004fll.4. human.

Organism-specific databases

CTDi 9130.
GeneCardsi GC0XP153672.
HGNCi HGNC:18786. FAM50A.
HPAi HPA003585.
MIMi 300453. gene.
neXtProti NX_Q14320.
PharmGKBi PA134984709.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG252249.
HOGENOMi HOG000283611.
HOVERGENi HBG000678.
InParanoidi Q14320.
KOi K13119.
OMAi VMADQLM.
PhylomeDBi Q14320.
TreeFami TF314738.

Miscellaneous databases

ChiTaRSi FAM50A. human.
GeneWikii FAM50A.
GenomeRNAii 9130.
NextBioi 34225.
PROi Q14320.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q14320.
Bgeei Q14320.
CleanExi HS_FAM50A.
Genevestigatori Q14320.

Family and domain databases

InterProi IPR007005. XAP5.
[Graphical view ]
PANTHERi PTHR12722. PTHR12722. 1 hit.
Pfami PF04921. XAP5. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Differential expression of XAP5, a candidate disease gene."
    Mazzarella R., Pengue G., Yoon J., Jones J., Schlessinger D.
    Genomics 45:216-219(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY.
  2. "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].
  3. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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].
    Tissue: Colon and Placenta.
  6. "Isolation and analysis of a novel gene, HXC-26, adjacent to the rab GDP dissociation inhibitor gene located at human chromosome Xq28 region."
    Toyoda A., Sakai T., Sugiyama Y., Kusuda J., Hashimoto K., Maeda H.
    DNA Res. 3:337-340(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 15-339.
    Tissue: Skeletal muscle.
  7. "Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci."
    Chen E.Y., Zollo M., Mazzarella R.A., Ciccodicola A., Chen C.-N., Zuo L., Heiner C., Burough F.W., Ripetto M., Schlessinger D., D'Urso M.
    Hum. Mol. Genet. 5:659-668(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 66-339.
  8. Lubec G., Chen W.-Q., Sun Y.
    Submitted (DEC-2008) to UniProtKB
    Cited for: PROTEIN SEQUENCE OF 159-170, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: Fetal brain cortex.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiFA50A_HUMAN
AccessioniPrimary (citable) accession number: Q14320
Secondary accession number(s): A8KAQ4
, B2R997, Q5HY37, Q6PJH5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: January 11, 2001
Last modified: September 3, 2014
This is version 114 of the entry and version 2 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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