TXND8_HUMAN
ID TXND8_HUMAN Reviewed; 127 AA.
AC Q6A555; A1L4I2; A6NDK7; Q5T934;
DT 05-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2005, sequence version 2.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=Thioredoxin domain-containing protein 8;
DE AltName: Full=Spermatid-specific thioredoxin-3;
DE Short=Sptrx-3;
DE AltName: Full=Thioredoxin-6;
GN Name=TXNDC8; Synonyms=SPTRX3, TRX6;
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] (ISOFORMS 1 AND 2), POSSIBLE FUNCTION,
RP SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=15181017; DOI=10.1074/jbc.m404192200;
RA Jimenez A., Zu W., Rawe V.Y., Pelto-Huikko M., Flickinger C.J.,
RA Sutovsky P., Gustafsson J.-A., Oko R., Miranda-Vizuete A.;
RT "Spermatocyte/spermatid-specific thioredoxin-3, a novel Golgi apparatus-
RT associated thioredoxin, is a specific marker of aberrant spermatogenesis.";
RL J. Biol. Chem. 279:34971-34982(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Lymph;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: May be required for post-translational modifications of
CC proteins required for acrosomal biogenesis. May act by reducing
CC disulfide bonds within the sperm.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15181017}. Golgi
CC apparatus {ECO:0000269|PubMed:15181017}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6A555-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6A555-2; Sequence=VSP_014333;
CC -!- TISSUE SPECIFICITY: Testis-specific. Only expressed during
CC spermiogenesis, prominently in the Golgi apparatus of pachytene
CC spermatocytes and round and elongated spermatids, with a transient
CC localization in the developing acrosome of round spermatids (at protein
CC level). {ECO:0000269|PubMed:15181017}.
CC -!- MISCELLANEOUS: Increased levels, possibly caused by overexpression, are
CC observed in morphologically abnormal spermatozoa from infertile men,
CC suggesting that it may be used as a marker of aberrant spermatogenesis.
CC -!- SIMILARITY: Belongs to the thioredoxin family. {ECO:0000305}.
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DR EMBL; AF305830; AAQ14501.1; -; mRNA.
DR EMBL; AL158158; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC130549; AAI30550.1; -; mRNA.
DR EMBL; BC130551; AAI30552.1; -; mRNA.
DR CCDS; CCDS35104.1; -. [Q6A555-2]
DR RefSeq; NP_001003936.1; NM_001003936.3. [Q6A555-2]
DR RefSeq; NP_001273875.1; NM_001286946.1.
DR RefSeq; XP_016870070.1; XM_017014581.1. [Q6A555-1]
DR AlphaFoldDB; Q6A555; -.
DR SMR; Q6A555; -.
DR BioGRID; 129086; 4.
DR STRING; 9606.ENSP00000363634; -.
DR PhosphoSitePlus; Q6A555; -.
DR BioMuta; TXNDC8; -.
DR DMDM; 68566177; -.
DR PaxDb; Q6A555; -.
DR PeptideAtlas; Q6A555; -.
DR PRIDE; Q6A555; -.
DR Antibodypedia; 48474; 33 antibodies from 8 providers.
DR DNASU; 255220; -.
DR Ensembl; ENST00000374510.8; ENSP00000363634.4; ENSG00000204193.11. [Q6A555-2]
DR Ensembl; ENST00000374511.7; ENSP00000363635.3; ENSG00000204193.11. [Q6A555-1]
DR GeneID; 255220; -.
DR KEGG; hsa:255220; -.
DR UCSC; uc004bes.5; human. [Q6A555-1]
DR CTD; 255220; -.
DR DisGeNET; 255220; -.
DR GeneCards; TXNDC8; -.
DR HGNC; HGNC:31454; TXNDC8.
DR HPA; ENSG00000204193; Tissue enriched (testis).
DR MIM; 617789; gene.
DR neXtProt; NX_Q6A555; -.
DR OpenTargets; ENSG00000204193; -.
DR PharmGKB; PA134935003; -.
DR VEuPathDB; HostDB:ENSG00000204193; -.
DR eggNOG; KOG0907; Eukaryota.
DR GeneTree; ENSGT00940000162445; -.
DR HOGENOM; CLU_090389_14_6_1; -.
DR InParanoid; Q6A555; -.
DR OMA; FHAMSLK; -.
DR OrthoDB; 1482186at2759; -.
DR PhylomeDB; Q6A555; -.
DR TreeFam; TF321403; -.
DR PathwayCommons; Q6A555; -.
DR BioGRID-ORCS; 255220; 7 hits in 1023 CRISPR screens.
DR GenomeRNAi; 255220; -.
DR Pharos; Q6A555; Tbio.
DR PRO; PR:Q6A555; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q6A555; protein.
DR Bgee; ENSG00000204193; Expressed in left testis and 52 other tissues.
DR ExpressionAtlas; Q6A555; baseline and differential.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0005794; C:Golgi apparatus; IDA:UniProtKB.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0007283; P:spermatogenesis; IEP:UniProtKB.
DR InterPro; IPR036249; Thioredoxin-like_sf.
DR InterPro; IPR013766; Thioredoxin_domain.
DR Pfam; PF00085; Thioredoxin; 1.
DR SUPFAM; SSF52833; SSF52833; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Developmental protein; Differentiation;
KW Disulfide bond; Golgi apparatus; Redox-active center; Reference proteome;
KW Spermatogenesis.
FT CHAIN 1..127
FT /note="Thioredoxin domain-containing protein 8"
FT /id="PRO_0000120162"
FT DOMAIN 1..92
FT /note="Thioredoxin"
FT DISULFID 32..35
FT /note="Redox-active"
FT /evidence="ECO:0000250"
FT VAR_SEQ 108..127
FT /note="IFEFCGADAKKLEAKTQELM -> CLADDGNE (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15181017,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_014333"
FT VARIANT 60
FT /note="N -> H (in dbSNP:rs7041938)"
FT /id="VAR_057353"
SQ SEQUENCE 127 AA; 14575 MW; 94BBF008A82CBD8F CRC64;
MVQIIKDTNE FKTFLTAAGH KLAVVQFSSK RCGPCKRMFP VFHAMSVKYQ NVFFANVDVN
NSPELAETCH IKTIPTFQMF KKSQKVTLFS RIKRIICCYR SGFMSNLIFE FCGADAKKLE
AKTQELM
