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Protein

Putative tenascin-XA

Gene

TNXA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Protein uncertaini

Functioni

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Putative tenascin-XA
Short name:
TN-XA
Gene namesi
Name:TNXA
Synonyms:XA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Unplaced

Organism-specific databases

HGNCiHGNC:11975. TNXA.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • proteinaceous extracellular matrix Source: InterPro
Complete GO annotation...

Pathology & Biotechi

Polymorphism and mutation databases

DMDMi74706767.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 311311Putative tenascin-XAPRO_0000348270Add
BLAST

Proteomic databases

PaxDbiQ16473.
PRIDEiQ16473.

Expressioni

Tissue specificityi

Expressed in the adrenal gland.1 Publication

Interactioni

Protein-protein interaction databases

IntActiQ16473. 2 interactions.
STRINGi9606.ENSP00000407685.

Structurei

3D structure databases

ProteinModelPortaliQ16473.
SMRiQ16473. Positions 37-300.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini41 – 13595Fibronectin type-III 1PROSITE-ProRule annotationAdd
BLAST
Domaini145 – 249105Fibronectin type-III 2PROSITE-ProRule annotationAdd
BLAST
Domaini250 – 31162Fibronectin type-III 3PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 3 fibronectin type-III domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG2579. Eukaryota.
ENOG410ZYS4. LUCA.
HOGENOMiHOG000172361.
HOVERGENiHBG096398.
InParanoidiQ16473.
PhylomeDBiQ16473.

Family and domain databases

Gene3Di2.60.40.10. 3 hits.
InterProiIPR003961. FN3_dom.
IPR013783. Ig-like_fold.
IPR033081. TNX.
[Graphical view]
PANTHERiPTHR19143:SF244. PTHR19143:SF244. 1 hit.
PfamiPF00041. fn3. 3 hits.
[Graphical view]
SMARTiSM00060. FN3. 3 hits.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 3 hits.
PROSITEiPS50853. FN3. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q16473-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MEDKNGAPHG APHSDSPLGF SHAAPEEDTP APELAPEAPE PPEEPRLGVL
60 70 80 90 100
TVTDTTPDSM RLSWSVAQGP FDSFVVQYED TNGQPQALLV DGDQSKILIS
110 120 130 140 150
GLEPSTPYRF LLYGLHEGKR LGPLSAEGTT GLAPAGQTSE ESRPRLSQLS
160 170 180 190 200
VTDVTTSSLR LNWEAPPGAF DSFLLRFGVP SPSTLEPHPR PLLQRELMVP
210 220 230 240 250
GTRHSAVLRD LRSGTLYSLT LYGLRGPHKA DSIQGTARTL SPVLESPRDL
260 270 280 290 300
QFSEIRETSA KVNWMPPPSR ADSFKVSYQL ADGGEPQSVQ VDGRARTQKL
310
QFLTVPHSCV H
Length:311
Mass (Da):33,740
Last modified:May 1, 2000 - v2
Checksum:iCEC8C1E999613A43
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S38953 Genomic DNA. Translation: AAB22399.2.
PIRiA38921.
UniGeneiHs.708061.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S38953 Genomic DNA. Translation: AAB22399.2.
PIRiA38921.
UniGeneiHs.708061.

3D structure databases

ProteinModelPortaliQ16473.
SMRiQ16473. Positions 37-300.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ16473. 2 interactions.
STRINGi9606.ENSP00000407685.

Polymorphism and mutation databases

DMDMi74706767.

Proteomic databases

PaxDbiQ16473.
PRIDEiQ16473.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Organism-specific databases

GeneCardsiTNXA.
HGNCiHGNC:11975. TNXA.
neXtProtiNX_Q16473.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2579. Eukaryota.
ENOG410ZYS4. LUCA.
HOGENOMiHOG000172361.
HOVERGENiHBG096398.
InParanoidiQ16473.
PhylomeDBiQ16473.

Family and domain databases

Gene3Di2.60.40.10. 3 hits.
InterProiIPR003961. FN3_dom.
IPR013783. Ig-like_fold.
IPR033081. TNX.
[Graphical view]
PANTHERiPTHR19143:SF244. PTHR19143:SF244. 1 hit.
PfamiPF00041. fn3. 3 hits.
[Graphical view]
SMARTiSM00060. FN3. 3 hits.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 3 hits.
PROSITEiPS50853. FN3. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus."
    Gitelman S.E., Bristow J., Miller W.L.
    Mol. Cell. Biol. 12:2124-2134(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
  2. Erratum
    Gitelman S.E., Bristow J., Miller W.L.
    Mol. Cell. Biol. 12:3313-3314(1992)
  3. "An unequal crossover event in RCCX modules of the human MHC resulting in the formation of a TNXB/TNXA hybrid and deletion of the CYP21A."
    Jaatinen T., Chung E.K., Ruuskanen O., Lokki M.-L.
    Hum. Immunol. 63:683-689(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: GENE STRUCTURE.
  4. "Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions."
    Koppens P.F.J., Hoogenboezem T., Degenhart H.J.
    Hum. Mol. Genet. 11:2581-2590(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: GENE STRUCTURE.

Entry informationi

Entry nameiTENXA_HUMAN
AccessioniPrimary (citable) accession number: Q16473
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 2, 2008
Last sequence update: May 1, 2000
Last modified: May 11, 2016
This is version 94 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

Miscellaneous

TNX genes are located in the class III HLA region within a complex locus, named RCCX module, containing genes for RP1/STK19, C4B, CYP21B/CYP21A2 and TNXB. Most chromosomes bear 2 modules, but monomodular and trimodular haplotypes are common in most populations. The bimodular haplotype results from the duplication of the RCCX module, leading to a duplicate containing RP2/RP1 pseudogene, C4A, CYP21A/CYP21A1P and TNXA. TNXA is a duplicated section of TNXB and probably consists in a truncated pseudogene: it contains a 120 bp deletion causing a frameshift and a premature stop codon that probably render the gene non-functional. In some pathologies, an unequal crossover between monomodular and bimodular RCCX results in a chromosome with a TNXB-TNXA hybrid gene, arising from a fusion between the TNXB gene of a monomodular RCCX and the TNXA gene of a bimodular RCCX. The TNXB-TNXA hybrid may correspond to TNXB-Short gene and may produce a functional protein.

Caution

Could be the product of a pseudogene. TNXA is transcriptionally active in adrenal cortex but no protein product has been observed.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. 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.