TENXA_HUMAN
ID TENXA_HUMAN Reviewed; 311 AA.
AC Q16473;
DT 02-SEP-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 2.
DT 03-AUG-2022, entry version 120.
DE RecName: Full=Putative tenascin-XA;
DE Short=TN-XA;
GN Name=TNXA; Synonyms=XA;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
RX PubMed=1373808; DOI=10.1128/mcb.12.5.2124-2134.1992;
RA Gitelman S.E., Bristow J., Miller W.L.;
RT "Mechanism and consequences of the duplication of the human C4/P450c21/gene
RT X locus.";
RL Mol. Cell. Biol. 12:2124-2134(1992).
RN [2]
RP ERRATUM OF PUBMED:1373808.
RA Gitelman S.E., Bristow J., Miller W.L.;
RL Mol. Cell. Biol. 12:3313-3314(1992).
RN [3]
RP GENE STRUCTURE.
RX PubMed=12121677; DOI=10.1016/s0198-8859(02)00416-0;
RA Jaatinen T., Chung E.K., Ruuskanen O., Lokki M.-L.;
RT "An unequal crossover event in RCCX modules of the human MHC resulting in
RT the formation of a TNXB/TNXA hybrid and deletion of the CYP21A.";
RL Hum. Immunol. 63:683-689(2002).
RN [4]
RP GENE STRUCTURE.
RX PubMed=12354783; DOI=10.1093/hmg/11.21.2581;
RA Koppens P.F.J., Hoogenboezem T., Degenhart H.J.;
RT "Carriership of a defective tenascin-X gene in steroid 21-hydroxylase
RT deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene
RT conversions.";
RL Hum. Mol. Genet. 11:2581-2590(2002).
CC -!- TISSUE SPECIFICITY: Expressed in the adrenal gland.
CC {ECO:0000269|PubMed:1373808}.
CC -!- MISCELLANEOUS: TNX genes are located in the class III HLA region within
CC a complex locus, named RCCX module, containing genes for RP1/STK19,
CC C4B, CYP21B/CYP21A2 and TNXB. Most chromosomes bear 2 modules, but
CC monomodular and trimodular haplotypes are common in most populations.
CC The bimodular haplotype results from the duplication of the RCCX
CC module, leading to a duplicate containing RP2/RP1 pseudogene, C4A,
CC CYP21A/CYP21A1P and TNXA. TNXA is a duplicated section of TNXB and
CC probably consists in a truncated pseudogene: it contains a 120 bp
CC deletion causing a frameshift and a premature stop codon that probably
CC render the gene non-functional. In some pathologies, an unequal
CC crossover between monomodular and bimodular RCCX results in a
CC chromosome with a TNXB-TNXA hybrid gene, arising from a fusion between
CC the TNXB gene of a monomodular RCCX and the TNXA gene of a bimodular
CC RCCX. The TNXB-TNXA hybrid may correspond to TNXB-Short gene and may
CC produce a functional protein.
CC -!- CAUTION: Could be the product of a pseudogene. TNXA is
CC transcriptionally active in adrenal cortex but no protein product has
CC been observed. {ECO:0000305}.
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DR EMBL; S38953; AAB22399.2; -; Genomic_DNA.
DR PIR; A38921; A38921.
DR AlphaFoldDB; Q16473; -.
DR SMR; Q16473; -.
DR IntAct; Q16473; 2.
DR BioMuta; HGNC:11975; -.
DR DMDM; 74706767; -.
DR jPOST; Q16473; -.
DR MassIVE; Q16473; -.
DR PeptideAtlas; Q16473; -.
DR PRIDE; Q16473; -.
DR ProteomicsDB; 60873; -.
DR GeneCards; TNXA; -.
DR HGNC; HGNC:11975; TNXA.
DR neXtProt; NX_Q16473; -.
DR InParanoid; Q16473; -.
DR PhylomeDB; Q16473; -.
DR PathwayCommons; Q16473; -.
DR SignaLink; Q16473; -.
DR Pharos; Q16473; Tdark.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; Q16473; protein.
DR GO; GO:0062023; C:collagen-containing extracellular matrix; IBA:GO_Central.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR GO; GO:0098633; F:collagen fibril binding; IBA:GO_Central.
DR GO; GO:0030199; P:collagen fibril organization; IEA:InterPro.
DR GO; GO:0030198; P:extracellular matrix organization; IBA:GO_Central.
DR GO; GO:0030155; P:regulation of cell adhesion; IBA:GO_Central.
DR CDD; cd00063; FN3; 3.
DR Gene3D; 2.60.40.10; -; 3.
DR InterPro; IPR003961; FN3_dom.
DR InterPro; IPR036116; FN3_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR033081; TNX.
DR PANTHER; PTHR46708:SF3; PTHR46708:SF3; 1.
DR Pfam; PF00041; fn3; 3.
DR SMART; SM00060; FN3; 3.
DR SUPFAM; SSF49265; SSF49265; 3.
DR PROSITE; PS50853; FN3; 2.
PE 5: Uncertain;
KW Reference proteome; Repeat.
FT CHAIN 1..311
FT /note="Putative tenascin-XA"
FT /id="PRO_0000348270"
FT DOMAIN 41..135
FT /note="Fibronectin type-III 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 145..249
FT /note="Fibronectin type-III 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 250..311
FT /note="Fibronectin type-III 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT REGION 1..47
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 124..150
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 131..150
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 311 AA; 33740 MW; CEC8C1E999613A43 CRC64;
MEDKNGAPHG APHSDSPLGF SHAAPEEDTP APELAPEAPE PPEEPRLGVL TVTDTTPDSM
RLSWSVAQGP FDSFVVQYED TNGQPQALLV DGDQSKILIS GLEPSTPYRF LLYGLHEGKR
LGPLSAEGTT GLAPAGQTSE ESRPRLSQLS VTDVTTSSLR LNWEAPPGAF DSFLLRFGVP
SPSTLEPHPR PLLQRELMVP GTRHSAVLRD LRSGTLYSLT LYGLRGPHKA DSIQGTARTL
SPVLESPRDL QFSEIRETSA KVNWMPPPSR ADSFKVSYQL ADGGEPQSVQ VDGRARTQKL
QFLTVPHSCV H
