F149B_HUMAN
ID F149B_HUMAN Reviewed; 582 AA.
AC Q96BN6; Q9Y2I0;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 26-FEB-2008, sequence version 2.
DT 03-AUG-2022, entry version 123.
DE RecName: Full=Primary cilium assembly protein FAM149B1 {ECO:0000305|PubMed:30905400};
GN Name=FAM149B1 {ECO:0000312|HGNC:HGNC:29162}; Synonyms=KIAA0974;
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 GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 18-582 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=10231032; DOI=10.1093/dnares/6.1.63;
RA Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N.,
RA Tanaka A., Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XIII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 6:63-70(1999).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 61-582 (ISOFORM 2).
RC TISSUE=Prostate;
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 INVOLVEMENT IN JBTS36, VARIANT JBTS36 147-GLN--PRO-582 DEL,
RP CHARACTERIZATION OF VARIANT JBTS36 147-GLN--PRO-582 DEL, FUNCTION,
RP INTERACTION WITH TBC1D32, AND SUBCELLULAR LOCATION.
RX PubMed=30905400; DOI=10.1016/j.ajhg.2019.02.018;
RA Shaheen R., Jiang N., Alzahrani F., Ewida N., Al-Sheddi T., Alobeid E.,
RA Musaev D., Stanley V., Hashem M., Ibrahim N., Abdulwahab F., Alshenqiti A.,
RA Sonmez F.M., Saqati N., Alzaidan H., Al-Qattan M.M., Al-Mohanna F.,
RA Gleeson J.G., Alkuraya F.S.;
RT "Bi-allelic mutations in FAM149B1 cause abnormal primary cilium and a range
RT of ciliopathy phenotypes in humans.";
RL Am. J. Hum. Genet. 104:731-737(2019).
CC -!- FUNCTION: Involved in the localization of proteins to the cilium and
CC cilium assembly. Indirectly regulates the signaling functions of the
CC cilium, being required for normal SHH/smoothened signaling and proper
CC development. {ECO:0000269|PubMed:30905400}.
CC -!- SUBUNIT: Interacts with TBC1D32; may play a role in cilium assembly.
CC {ECO:0000269|PubMed:30905400}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium
CC {ECO:0000305|PubMed:30905400}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96BN6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96BN6-2; Sequence=VSP_031533, VSP_031534;
CC -!- DISEASE: Joubert syndrome 36 (JBTS36) [MIM:618763]: A form of Joubert
CC syndrome, a disorder presenting with cerebellar ataxia, oculomotor
CC apraxia, hypotonia, neonatal breathing abnormalities and psychomotor
CC delay. Neuroradiologically, it is characterized by cerebellar vermian
CC hypoplasia/aplasia, thickened and reoriented superior cerebellar
CC peduncles, and an abnormally large interpeduncular fossa, giving the
CC appearance of a molar tooth on transaxial slices (molar tooth sign).
CC Additional variable features include retinal dystrophy, renal disease,
CC liver fibrosis, and polydactyly. JBTS36 inheritance is autosomal
CC recessive. {ECO:0000269|PubMed:30905400}. Note=The disease is caused by
CC variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the FAM149 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH15394.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AC016394; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AB023191; BAA76818.1; -; mRNA.
DR EMBL; BC015394; AAH15394.1; ALT_INIT; mRNA.
DR CCDS; CCDS44435.1; -. [Q96BN6-1]
DR RefSeq; NP_775483.1; NM_173348.1. [Q96BN6-1]
DR AlphaFoldDB; Q96BN6; -.
DR BioGRID; 130429; 6.
DR IntAct; Q96BN6; 3.
DR STRING; 9606.ENSP00000242505; -.
DR iPTMnet; Q96BN6; -.
DR PhosphoSitePlus; Q96BN6; -.
DR BioMuta; FAM149B1; -.
DR DMDM; 182676632; -.
DR jPOST; Q96BN6; -.
DR MassIVE; Q96BN6; -.
DR PaxDb; Q96BN6; -.
DR PeptideAtlas; Q96BN6; -.
DR PRIDE; Q96BN6; -.
DR ProteomicsDB; 76092; -. [Q96BN6-1]
DR ProteomicsDB; 76093; -. [Q96BN6-2]
DR Antibodypedia; 49231; 76 antibodies from 12 providers.
DR DNASU; 317662; -.
DR Ensembl; ENST00000242505.11; ENSP00000242505.6; ENSG00000138286.15. [Q96BN6-1]
DR GeneID; 317662; -.
DR KEGG; hsa:317662; -.
DR MANE-Select; ENST00000242505.11; ENSP00000242505.6; NM_173348.2; NP_775483.1.
DR UCSC; uc009xqz.4; human. [Q96BN6-1]
DR CTD; 317662; -.
DR DisGeNET; 317662; -.
DR GeneCards; FAM149B1; -.
DR HGNC; HGNC:29162; FAM149B1.
DR HPA; ENSG00000138286; Low tissue specificity.
DR MalaCards; FAM149B1; -.
DR MIM; 618413; gene.
DR MIM; 618763; phenotype.
DR neXtProt; NX_Q96BN6; -.
DR OpenTargets; ENSG00000138286; -.
DR Orphanet; 2754; Orofaciodigital syndrome type 6.
DR PharmGKB; PA162386399; -.
DR VEuPathDB; HostDB:ENSG00000138286; -.
DR eggNOG; ENOG502QVD4; Eukaryota.
DR GeneTree; ENSGT00530000063727; -.
DR HOGENOM; CLU_018180_1_1_1; -.
DR InParanoid; Q96BN6; -.
DR OMA; CSMEREE; -.
DR OrthoDB; 538466at2759; -.
DR PhylomeDB; Q96BN6; -.
DR TreeFam; TF330725; -.
DR PathwayCommons; Q96BN6; -.
DR SignaLink; Q96BN6; -.
DR BioGRID-ORCS; 317662; 18 hits in 1079 CRISPR screens.
DR ChiTaRS; FAM149B1; human.
DR GenomeRNAi; 317662; -.
DR Pharos; Q96BN6; Tdark.
DR PRO; PR:Q96BN6; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q96BN6; protein.
DR Bgee; ENSG00000138286; Expressed in C1 segment of cervical spinal cord and 172 other tissues.
DR ExpressionAtlas; Q96BN6; baseline and differential.
DR Genevisible; Q96BN6; HS.
DR GO; GO:0005929; C:cilium; IEA:UniProtKB-SubCell.
DR GO; GO:0060271; P:cilium assembly; IMP:UniProtKB.
DR GO; GO:0061512; P:protein localization to cilium; IMP:UniProtKB.
DR InterPro; IPR022194; DUF3719.
DR InterPro; IPR039630; FAM149.
DR PANTHER; PTHR31997; PTHR31997; 1.
DR Pfam; PF12516; DUF3719; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Ciliopathy; Cilium;
KW Cilium biogenesis/degradation; Disease variant; Joubert syndrome;
KW Reference proteome.
FT CHAIN 1..582
FT /note="Primary cilium assembly protein FAM149B1"
FT /id="PRO_0000319933"
FT REGION 16..67
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 413..438
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 485..512
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 545..582
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 20..52
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 53..67
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 491..510
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 561..582
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 334..341
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_031533"
FT VAR_SEQ 535..582
FT /note="LDTQYRRSCAVEYPHQARPGRGSAGPQLHGSTKSQSGGRPVSRTRQGP ->
FT VE (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_031534"
FT VARIANT 147..582
FT /note="Missing (in JBTS36; changed protein localization to
FT cilium; changed cilium assembly; no difference in the
FT number of ciliated cells but SHH signaling is altered)"
FT /evidence="ECO:0000269|PubMed:30905400"
FT /id="VAR_083866"
FT VARIANT 571
FT /note="G -> R (in dbSNP:rs12573841)"
FT /id="VAR_060167"
SQ SEQUENCE 582 AA; 64618 MW; 5DA856203C1A26B7 CRC64;
MISRYTRKAV PQSLELKGIT KHALNHHPPP EKLEEISPTS DSHEKDTSSQ SKSDITRESS
FTSADTGNSL SAFPSYTGAG ISTEGSSDFS WGYGELDQNA TEKVQTMFTA IDELLYEQKL
SVHTKSLQEE CQQWTASFPH LRILGRQIIT PSEGYRLYPR SPSAVSASYE TTLSQERDST
IFGIRGKKLH FSSSYAHKAS SIAKSSSFCS MERDEEDSII VSEGIIEEYL AFDHIDIEEG
FHGKKSEAAT EKQKLGYPPI APFYCMKEDV LAYVFDSVWC KVVSCMEQLT RSHWEGFASD
DESNVAVTRP DSESSCVLSE LHPLVLPRVP QSKVLYITSN PMSLCQASRH QPNVNDLLVH
GMPLQPRNLS LMDKLLDLDD KLLMRPGSST ILSTRNWPNR AVEFSTSSLS YTVQSTRRRN
PPPRTLHPIS TSHSCAETPR SVEEILRGAR VPVAPDSLSS PSPTPLSRNN LLPPIGTAEV
EHVSTVGPQR QMKPHGDSSR AQSAVVDEPN YQQPQERLLL PDFFPRPNTT QSFLLDTQYR
RSCAVEYPHQ ARPGRGSAGP QLHGSTKSQS GGRPVSRTRQ GP
