F178B_HUMAN
ID F178B_HUMAN Reviewed; 679 AA.
AC Q8IXR5; A8MXN2; E9PD86; Q8IUY0; Q9P0P4;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 13-NOV-2019, sequence version 3.
DT 03-AUG-2022, entry version 121.
DE RecName: Full=Protein FAM178B {ECO:0000305};
GN Name=FAM178B {ECO:0000312|HGNC:HGNC:28036}; ORFNames=HSPC234;
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 [LARGE SCALE MRNA] (ISOFORM 4).
RC TISSUE=Umbilical cord blood;
RX PubMed=11042152; DOI=10.1101/gr.140200;
RA Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G.,
RA Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W.,
RA Tao J., Huang Q.-H., Zhou J., Hu G.-X., Gu J., Chen S.-J., Chen Z.;
RT "Cloning and functional analysis of cDNAs with open reading frames for 300
RT previously undefined genes expressed in CD34+ hematopoietic stem/progenitor
RT cells.";
RL Genome Res. 10:1546-1560(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 162-679 (ISOFORM 3).
RC TISSUE=Skin;
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 -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=3;
CC IsoId=Q8IXR5-3; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IXR5-2; Sequence=VSP_060401;
CC Name=4;
CC IsoId=Q8IXR5-4; Sequence=VSP_060402, VSP_060403;
CC -!- SIMILARITY: Belongs to the FAM178 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAF36154.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AF151068; AAF36154.1; ALT_FRAME; mRNA.
DR EMBL; AC079395; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC092636; AAY14968.1; -; Genomic_DNA.
DR EMBL; BC038583; AAH38583.3; -; mRNA.
DR EMBL; BC039488; AAH39488.1; -; mRNA.
DR EMBL; BC051379; AAH51379.1; -; mRNA.
DR CCDS; CCDS33252.1; -. [Q8IXR5-2]
DR CCDS; CCDS46366.2; -. [Q8IXR5-3]
DR RefSeq; NP_001116118.2; NM_001122646.2. [Q8IXR5-3]
DR RefSeq; NP_001166138.1; NM_001172667.1. [Q8IXR5-4]
DR RefSeq; NP_057574.2; NM_016490.4. [Q8IXR5-2]
DR RefSeq; XP_016859757.1; XM_017004268.1. [Q8IXR5-2]
DR AlphaFoldDB; Q8IXR5; -.
DR BioGRID; 119409; 1.
DR IntAct; Q8IXR5; 2.
DR STRING; 9606.ENSP00000429896; -.
DR PhosphoSitePlus; Q8IXR5; -.
DR BioMuta; FAM178B; -.
DR DMDM; 172045738; -.
DR MassIVE; Q8IXR5; -.
DR PaxDb; Q8IXR5; -.
DR PeptideAtlas; Q8IXR5; -.
DR PRIDE; Q8IXR5; -.
DR ProteomicsDB; 19608; -.
DR ProteomicsDB; 71051; -. [Q8IXR5-2]
DR Antibodypedia; 47509; 23 antibodies from 11 providers.
DR DNASU; 51252; -.
DR Ensembl; ENST00000393526.6; ENSP00000377160.2; ENSG00000168754.15. [Q8IXR5-2]
DR Ensembl; ENST00000490605.3; ENSP00000429896.1; ENSG00000168754.15. [Q8IXR5-3]
DR GeneID; 51252; -.
DR KEGG; hsa:51252; -.
DR MANE-Select; ENST00000490605.3; ENSP00000429896.1; NM_001122646.3; NP_001116118.2.
DR UCSC; uc002sxj.4; human. [Q8IXR5-3]
DR CTD; 51252; -.
DR DisGeNET; 51252; -.
DR GeneCards; FAM178B; -.
DR HGNC; HGNC:28036; FAM178B.
DR HPA; ENSG00000168754; Group enriched (bone marrow, brain, epididymis, lymphoid tissue, testis).
DR neXtProt; NX_Q8IXR5; -.
DR OpenTargets; ENSG00000168754; -.
DR PharmGKB; PA162387456; -.
DR VEuPathDB; HostDB:ENSG00000168754; -.
DR eggNOG; ENOG502RXJ9; Eukaryota.
DR GeneTree; ENSGT00530000064017; -.
DR HOGENOM; CLU_166950_0_0_1; -.
DR InParanoid; Q8IXR5; -.
DR OMA; AMHRTKL; -.
DR OrthoDB; 713086at2759; -.
DR PhylomeDB; Q8IXR5; -.
DR TreeFam; TF332216; -.
DR PathwayCommons; Q8IXR5; -.
DR SignaLink; Q8IXR5; -.
DR BioGRID-ORCS; 51252; 9 hits in 1077 CRISPR screens.
DR ChiTaRS; FAM178B; human.
DR GenomeRNAi; 51252; -.
DR Pharos; Q8IXR5; Tdark.
DR PRO; PR:Q8IXR5; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q8IXR5; protein.
DR Bgee; ENSG00000168754; Expressed in C1 segment of cervical spinal cord and 133 other tissues.
DR Genevisible; Q8IXR5; HS.
DR InterPro; IPR044276; CANIN_dom.
DR InterPro; IPR026161; FAM178.
DR PANTHER; PTHR16046; PTHR16046; 1.
DR Pfam; PF14816; CANIN; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..679
FT /note="Protein FAM178B"
FT /id="PRO_0000320193"
FT REGION 70..113
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 82..96
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..560
FT /note="Missing (in isoform 2)"
FT /id="VSP_060401"
FT VAR_SEQ 1..541
FT /note="Missing (in isoform 4)"
FT /id="VSP_060402"
FT VAR_SEQ 542..550
FT /note="LPLWQEKTQ -> MKMMVVLLM (in isoform 4)"
FT /id="VSP_060403"
FT VARIANT 645
FT /note="R -> C (in dbSNP:rs34013660)"
FT /id="VAR_039172"
FT CONFLICT 563
FT /note="P -> H (in Ref. 1; AAF36154)"
FT /evidence="ECO:0000305"
FT CONFLICT 646
FT /note="T -> P (in Ref. 1; AAF36154)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 679 AA; 76515 MW; 8140A458F9026C22 CRC64;
MWPRLPGAGL APQLRRQDQR LHFTGQMSHG LQMAGPQETV LALPLREGVQ AAATVPILLY
NLEDGLSDHP LDQGPRCPAR RPCSPASAPA PTSPKKPKIQ APGETFPTDW SPPPVEFLNP
RVLQASREAP AQRWVGVVGP QGLRRLAGEL PEELEQEHLD LDPKRGLALP EKLFWNTSGL
SQQAAAPEFS WGGSGSYFNN LDYLLQEKRE QALEQERERL LLQECLNLNS LDLDEEEVPL
TPEHRMLVEK YSVSLQTIPP VHPGETVFLP RCHPLPCILD SSLLKPRSHL EGLFLSSPPA
QQLSFLRSGL LNILYLHMPD CPVSLLQWLF QLLTWPPETS LGAFGLLWDL IVDGIFLQPD
EDKHLWCPSL QEVREAFHSL GAHSPALYPL GPFWHGGRVL PGEAGLNENE EQDAPQEIAL
DISLGHIYKF LALCAQAQPG AYTDENLMGL IELLCRTSLD VGLRLLPKVD LQQLLLLLLE
NIREWPGKLQ ELCCTLSWVS DHHHNLLALV QFFPDMTSRS RRLRSQLSLV VIARMLGQQE
MLPLWQEKTQ LSSLSRLLGL MRPSSLRQYL DSVPLPPCQE QQPKASAELD HKACYLCHSL
LMLAGVVVSC QDITPDQWGE LQLLCMQLDR HISTQIRESP QAMHRTMLKD LATQTYIRWQ
ELLTHCQPQA QYFSPWKDI
