ODFP1_HUMAN
ID ODFP1_HUMAN Reviewed; 250 AA.
AC Q14990; Q3SX72;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 17-APR-2007, sequence version 2.
DT 03-AUG-2022, entry version 157.
DE RecName: Full=Outer dense fiber protein 1;
DE AltName: Full=Heat shock protein beta-10;
DE Short=HspB10;
GN Name=ODF1; Synonyms=HSPB10, ODFP;
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 [GENOMIC DNA].
RC TISSUE=Sperm;
RX PubMed=8305202; DOI=10.1002/mrd.1080360402;
RA Gastmann O., Burfeind P., Gunther E., Hameister H., Szpirer C.,
RA Hoyer-Fender S.;
RT "Sequence, expression, and chromosomal assignment of a human sperm outer
RT dense fiber gene.";
RL Mol. Reprod. Dev. 36:407-418(1993).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS ASN-216 AND
RP 219-ASN--CYS-227 DEL.
RX PubMed=8111388; DOI=10.1093/hmg/2.12.2167;
RA Hofferbert S., Burfeind P., Hoyer-Fender S., Lange R., Haidl G., Engel W.;
RT "A homozygous deletion of 27 basepairs in the coding region of the human
RT outer dense fiber protein gene does not result in a pathologic phenotype.";
RL Hum. Mol. Genet. 2:2167-2170(1993).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ASN-216.
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).
RN [4]
RP INTERACTION WITH TCP11.
RX PubMed=21597245; DOI=10.1620/tjem.224.111;
RA Liu Y., Jiang M., Li C., Yang P., Sun H., Tao D., Zhang S., Ma Y.;
RT "Human t-complex protein 11 (TCP11), a testis-specific gene product, is a
RT potential determinant of the sperm morphology.";
RL Tohoku J. Exp. Med. 224:111-117(2011).
CC -!- FUNCTION: Component of the outer dense fibers (ODF) of spermatozoa. ODF
CC are filamentous structures located on the outside of the axoneme in the
CC midpiece and principal piece of the mammalian sperm tail and may help
CC to maintain the passive elastic structures and elastic recoil of the
CC sperm tail.
CC -!- SUBUNIT: Interacts (via leucine zipper motif) with TCP11 isoform 2 and
CC isoform 3 (PubMed:21597245). Interacts with SPAG4 (By similarity).
CC Interacts with KLC3 (By similarity). {ECO:0000250|UniProtKB:P21769,
CC ECO:0000269|PubMed:21597245}.
CC -!- INTERACTION:
CC Q14990; O95429: BAG4; NbExp=3; IntAct=EBI-10234557, EBI-2949658;
CC Q14990; P49639: HOXA1; NbExp=3; IntAct=EBI-10234557, EBI-740785;
CC Q14990; O43790: KRT86; NbExp=3; IntAct=EBI-10234557, EBI-9996498;
CC Q14990; P59991: KRTAP12-2; NbExp=3; IntAct=EBI-10234557, EBI-10176379;
CC Q14990; Q5T751: LCE1C; NbExp=3; IntAct=EBI-10234557, EBI-12224199;
CC Q14990; Q99750: MDFI; NbExp=3; IntAct=EBI-10234557, EBI-724076;
CC Q14990; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-10234557, EBI-16439278;
CC Q14990; Q5JR59: MTUS2; NbExp=4; IntAct=EBI-10234557, EBI-742948;
CC Q14990; P07237: P4HB; NbExp=3; IntAct=EBI-10234557, EBI-395883;
CC -!- TISSUE SPECIFICITY: Testis.
CC -!- DOMAIN: The C-terminal contains many C-X-P repeats.
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DR EMBL; M93131; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; X74614; CAA52685.1; -; Genomic_DNA.
DR EMBL; BC104456; AAI04457.1; -; mRNA.
DR EMBL; BC104457; AAI04458.1; -; mRNA.
DR CCDS; CCDS6293.1; -.
DR PIR; S71522; S71522.
DR RefSeq; NP_077721.2; NM_024410.3.
DR AlphaFoldDB; Q14990; -.
DR SMR; Q14990; -.
DR BioGRID; 111009; 28.
DR IntAct; Q14990; 23.
DR STRING; 9606.ENSP00000285402; -.
DR GlyGen; Q14990; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q14990; -.
DR PhosphoSitePlus; Q14990; -.
DR BioMuta; ODF1; -.
DR DMDM; 145559511; -.
DR MassIVE; Q14990; -.
DR PaxDb; Q14990; -.
DR PeptideAtlas; Q14990; -.
DR PRIDE; Q14990; -.
DR ProteomicsDB; 60276; -.
DR Antibodypedia; 61448; 58 antibodies from 16 providers.
DR DNASU; 4956; -.
DR Ensembl; ENST00000285402.4; ENSP00000285402.3; ENSG00000155087.4.
DR GeneID; 4956; -.
DR KEGG; hsa:4956; -.
DR MANE-Select; ENST00000285402.4; ENSP00000285402.3; NM_024410.4; NP_077721.2.
DR UCSC; uc003ykt.3; human.
DR CTD; 4956; -.
DR DisGeNET; 4956; -.
DR GeneCards; ODF1; -.
DR HGNC; HGNC:8113; ODF1.
DR HPA; ENSG00000155087; Tissue enriched (testis).
DR MIM; 182878; gene.
DR neXtProt; NX_Q14990; -.
DR OpenTargets; ENSG00000155087; -.
DR PharmGKB; PA31901; -.
DR VEuPathDB; HostDB:ENSG00000155087; -.
DR eggNOG; ENOG502S68A; Eukaryota.
DR GeneTree; ENSGT00440000038909; -.
DR HOGENOM; CLU_076121_0_0_1; -.
DR InParanoid; Q14990; -.
DR OMA; LYYPCCL; -.
DR OrthoDB; 1320934at2759; -.
DR PhylomeDB; Q14990; -.
DR TreeFam; TF337986; -.
DR PathwayCommons; Q14990; -.
DR SignaLink; Q14990; -.
DR BioGRID-ORCS; 4956; 38 hits in 1059 CRISPR screens.
DR GeneWiki; ODF1; -.
DR GenomeRNAi; 4956; -.
DR Pharos; Q14990; Tbio.
DR PRO; PR:Q14990; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q14990; protein.
DR Bgee; ENSG00000155087; Expressed in sperm and 116 other tissues.
DR ExpressionAtlas; Q14990; baseline and differential.
DR Genevisible; Q14990; HS.
DR GO; GO:0005634; C:nucleus; HDA:UniProtKB.
DR GO; GO:0001520; C:outer dense fiber; IBA:GO_Central.
DR GO; GO:0019904; F:protein domain specific binding; IEA:Ensembl.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
DR CDD; cd06482; ACD_HspB10; 1.
DR Gene3D; 2.60.40.790; -; 1.
DR InterPro; IPR002068; A-crystallin/Hsp20_dom.
DR InterPro; IPR008978; HSP20-like_chaperone.
DR InterPro; IPR037552; ODF1_ACD.
DR InterPro; IPR037389; ODFP.
DR PANTHER; PTHR17125; PTHR17125; 1.
DR Pfam; PF00011; HSP20; 1.
DR SUPFAM; SSF49764; SSF49764; 1.
PE 1: Evidence at protein level;
KW Developmental protein; Differentiation; Phosphoprotein; Reference proteome;
KW Repeat; Spermatogenesis.
FT CHAIN 1..250
FT /note="Outer dense fiber protein 1"
FT /id="PRO_0000058024"
FT REPEAT 34..38
FT /note="1"
FT REPEAT 73..77
FT /note="2"
FT REGION 34..77
FT /note="2 X 5 AA repeats of [RC]-C-L-C-D"
FT REGION 209..238
FT /note="C-X-P repeat region"
FT MOD_RES 5
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P21769"
FT MOD_RES 10
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P21769"
FT MOD_RES 64
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P21769"
FT MOD_RES 86
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P21769"
FT MOD_RES 122
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P21769"
FT MOD_RES 123
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P21769"
FT MOD_RES 151
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P21769"
FT MOD_RES 167
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P21769"
FT MOD_RES 189
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P21769"
FT MOD_RES 194
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P21769"
FT VARIANT 216
FT /note="S -> N (in dbSNP:rs2916569)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:8111388"
FT /id="VAR_031684"
FT VARIANT 219..227
FT /note="Missing"
FT /evidence="ECO:0000269|PubMed:8111388"
FT /id="VAR_005523"
FT VARIANT 243
FT /note="F -> L (in dbSNP:rs11995900)"
FT /id="VAR_051251"
FT CONFLICT 143
FT /note="V -> L (in Ref. 1; M93131)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 250 AA; 28366 MW; 48E7FD05C2FB952B CRC64;
MAALSCLLDS VRRDIKKVDR ELRQLRCIDE FSTRCLCDLY MHPYCCCDLH PYPYCLCYSK
RSRSCGLCDL YPCCLCDYKL YCLRPSLRSL ERKAIRAIED EKRELAKLRR TTNRILASSC
CSSNILGSVN VCGFEPDQVK VRVKDGKVCV SAERENRYDC LGSKKYSYMN ICKEFSLPPC
VDEKDVTYSY GLGSCVKIES PCYPCTSPCS PCSPCSPCNP CSPCNPCSPY DPCNPCYPCG
SRFSCRKMIL