WHAL1_HUMAN
ID WHAL1_HUMAN Reviewed; 153 AA.
AC Q1A5X7; Q1A5X8; Q52M16; Q52M18;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 11-JUL-2006, sequence version 1.
DT 25-MAY-2022, entry version 89.
DE RecName: Full=Putative WASP homolog-associated protein with actin, membranes and microtubules-like protein 1;
DE AltName: Full=WAS protein homolog associated with actin, Golgi membranes and microtubules pseudogene 3;
DE AltName: Full=WAS protein homology region 2 domain-containing protein 1-like protein 1;
DE Short=WH2 domain-containing protein 1-like protein 1;
DE Short=WHDC1-like protein 1;
GN Name=WHAMMP3; Synonyms=WHAMML1, WHDC1L1;
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), AND CHROMOSOMAL LOCATION.
RX PubMed=18226259; DOI=10.1186/1471-2164-9-50;
RA Jiang Y.-H., Wauki K., Liu Q., Bressler J., Pan Y., Kashork C.D.,
RA Shaffer L.G., Beaudet A.L.;
RT "Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region
RT and characterization of transcripts for GOLGA8E and WHCD1L1 from the
RT proximal breakpoint region.";
RL BMC Genomics 9:50-50(2008).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=2; Synonyms=II;
CC IsoId=Q1A5X7-1; Sequence=Displayed;
CC Name=1; Synonyms=I;
CC IsoId=Q1A5X7-2; Sequence=VSP_030789, VSP_030790;
CC -!- CAUTION: Could be the product of a pseudogene. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; DQ309039; ABD73923.1; -; mRNA.
DR EMBL; DQ309040; ABD73924.1; -; mRNA.
DR EMBL; AC138649; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR AlphaFoldDB; Q1A5X7; -.
DR SMR; Q1A5X7; -.
DR iPTMnet; Q1A5X7; -.
DR PhosphoSitePlus; Q1A5X7; -.
DR BioMuta; HGNC:27892; -.
DR jPOST; Q1A5X7; -.
DR MassIVE; Q1A5X7; -.
DR MaxQB; Q1A5X7; -.
DR PeptideAtlas; Q1A5X7; -.
DR PRIDE; Q1A5X7; -.
DR GeneCards; WHAMMP3; -.
DR HGNC; HGNC:27892; WHAMMP3.
DR neXtProt; NX_Q1A5X7; -.
DR InParanoid; Q1A5X7; -.
DR PhylomeDB; Q1A5X7; -.
DR PathwayCommons; Q1A5X7; -.
DR Pharos; Q1A5X7; Tdark.
DR PRO; PR:Q1A5X7; -.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; Q1A5X7; protein.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0033116; C:endoplasmic reticulum-Golgi intermediate compartment membrane; IBA:GO_Central.
DR GO; GO:0071933; F:Arp2/3 complex binding; IBA:GO_Central.
DR GO; GO:0034314; P:Arp2/3 complex-mediated actin nucleation; IBA:GO_Central.
DR GO; GO:0006888; P:endoplasmic reticulum to Golgi vesicle-mediated transport; IBA:GO_Central.
DR InterPro; IPR031738; JMY/WHAMM.
DR InterPro; IPR026688; WHAMM.
DR PANTHER; PTHR23330:SF6; PTHR23330:SF6; 1.
DR Pfam; PF15871; JMY; 1.
PE 5: Uncertain;
KW Alternative splicing; Coiled coil; Reference proteome.
FT CHAIN 1..153
FT /note="Putative WASP homolog-associated protein with actin,
FT membranes and microtubules-like protein 1"
FT /id="PRO_0000316814"
FT COILED 113..151
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..39
FT /note="Missing (in isoform 1)"
FT /evidence="ECO:0000303|PubMed:18226259"
FT /id="VSP_030789"
FT VAR_SEQ 151..153
FT /note="DEI -> EKQDEVVYYDPCESPEELSH (in isoform 1)"
FT /evidence="ECO:0000303|PubMed:18226259"
FT /id="VSP_030790"
FT CONFLICT 121
FT /note="L -> F (in Ref. 1; ABD73923)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 153 AA; 18091 MW; EE4F826A65891F4B CRC64;
MMILVFWSNY PYEPVCLASH RNNMEASVPK YKKHLPQLGM QKEMEQDVKR FGQAAWATAI
PRLEKLKLML AQETLQLMRA KELCLNHKRA EIQGKMEDLP EQEKNINVVD ELAIQFYEIQ
LELYEVKFEI LKNKEILLTT QLDSLERLIK DEI
