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Q3B820 (F161A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 73. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein FAM161A
Gene names
Name:FAM161A
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length660 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Involved in ciliogenesis. Ref.7

Subunit structure

Interacts (via C-terminus) with microtubules. Interacts with LCA5, CEP290 and SDCCAG8. Interacts with FAM161B. Ref.7 Ref.8

Subcellular location

Cytoplasmcytoskeletoncilium basal body. Cell projectioncilium. Note: Localized to the region between the outer and inner photoreceptor segments, corresponding to the photoreceptor connecting cilium. Ref.7

Tissue specificity

Isoform 1 and isoform 3 are widely expressed with highest levels in retina and testis, with isoform 1 being the most abundant in all tissues tested. Ref.5 Ref.6

Involvement in disease

Retinitis pigmentosa 28 (RP28) [MIM:606068]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Ref.6

Sequence similarities

Belongs to the FAM161 family.

Sequence caution

The sequence BAG58969.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q3B820-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q3B820-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-109: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q3B820-3)

The sequence of this isoform differs from the canonical sequence as follows:
     527-527: V → VRRSLEEKKMLEEERNRILTKQKQRMKELQKLLTTRAKAYDSHQSLAQISKSRVKCL

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 660660Protein FAM161A
PRO_0000329052

Regions

Coiled coil93 – 12028 Potential
Coiled coil296 – 32025 Potential
Coiled coil522 – 55231 Potential
Compositional bias47 – 526Poly-Glu
Compositional bias609 – 65850Glu-rich

Natural variations

Alternative sequence1 – 109109Missing in isoform 2.
VSP_032935
Alternative sequence5271V → VRRSLEEKKMLEEERNRILT KQKQRMKELQKLLTTRAKAY DSHQSLAQISKSRVKCL in isoform 3.
VSP_039126
Natural variant1071I → M. Ref.1
Corresponds to variant rs11125895 [ dbSNP | Ensembl ].
VAR_060180
Natural variant2361I → V.
Corresponds to variant rs17513722 [ dbSNP | Ensembl ].
VAR_042630
Natural variant2731E → K.
Corresponds to variant rs6733774 [ dbSNP | Ensembl ].
VAR_042631

Experimental info

Sequence conflict1451E → G in BX648834. Ref.1
Sequence conflict1671S → F in BAB14544. Ref.3
Sequence conflict5341R → M in BAG58969. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified April 8, 2008. Version 2.
Checksum: E2C0D443C1A0DAA5

FASTA66076,752
        10         20         30         40         50         60 
MATSHRVAKL VASSLQTPVN PITGARVAQY EREDPLKALA AAEAILEDEE EEKVAQPAGA 

        70         80         90        100        110        120 
SADLNTSFSG VDEHAPISYE DFVNFPDIHH SNEEYFKKVE ELKAAHIETM AKLEKMYQDK 

       130        140        150        160        170        180 
LHLKEVQPVV IREDSLSDSS RSVSEKNSYH PVSLMTSFSE PDLGQSSSLY VSSSEEELPN 

       190        200        210        220        230        240 
LEKEYPRKNR MMTYAKELIN NMWTDFCVED YIRCKDTGFH AAEKRRKKRK EWVPTITVPE 

       250        260        270        280        290        300 
PFQMMIREQK KKEESMKSKS DIEMVHKALK KQEEDPEYKK KFRANPVPAS VFLPLYHDLV 

       310        320        330        340        350        360 
KQKEERRRSL KEKSKEALLA SQKPFKFIAR EEQKRAAREK QLRDFLKYKK KTNRFKARPI 

       370        380        390        400        410        420 
PRSTYGSTTN DKLKEEELYR NLRTQLRAQE HLQNSSPLPC RSACGCRNPR CPEQAVKLKC 

       430        440        450        460        470        480 
KHKVRCPTPD FEDLPERYQK HLSEHKSPKL LTVCKPFDLH ASPHASIKRE KILADIEADE 

       490        500        510        520        530        540 
ENLKETRWPY LSPRRKSPVR CAGVNPVPCN CNPPVPTVSS RGREQAVRKS EKERMREYQR 

       550        560        570        580        590        600 
ELEEREEKLK KRPLLFERVA QKNARMAAEK HYSNTLKALG ISDEFVSKKG QSGKVLEYFN 

       610        620        630        640        650        660 
NQETKSVTED KESFNEEEKI EERENGEENY FIDTNSQDSY KEKDEANEES EEEKSVEESH 

« Hide

Isoform 2 [UniParc].

Checksum: F31A08F7C2AB938E
Show »

FASTA55164,836
Isoform 3 [UniParc].

Checksum: C2346158DFD127CD
Show »

FASTA71683,492

References

« Hide 'large scale' references
[1]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANT MET-107.
Tissue: Colon endothelium and Retina.
[2]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-545 (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 123-660 (ISOFORMS 1/2).
Tissue: Ovary and Thalamus.
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 43-660 (ISOFORM 1).
[5]"Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa."
Langmann T., Di Gioia S.A., Rau I., Stohr H., Maksimovic N.S., Corbo J.C., Renner A.B., Zrenner E., Kumaramanickavel G., Karlstetter M., Arsenijevic Y., Weber B.H., Gal A., Rivolta C.
Am. J. Hum. Genet. 87:376-381(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN RP28, TISSUE SPECIFICITY.
[6]"Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa."
Bandah-Rozenfeld D., Mizrahi-Meissonnier L., Farhy C., Obolensky A., Chowers I., Pe'er J., Merin S., Ben-Yosef T., Ashery-Padan R., Banin E., Sharon D.
Am. J. Hum. Genet. 87:382-391(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN RP28, TISSUE SPECIFICITY.
[7]"FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies."
Di Gioia S.A., Letteboer S.J., Kostic C., Bandah-Rozenfeld D., Hetterschijt L., Sharon D., Arsenijevic Y., Roepman R., Rivolta C.
Hum. Mol. Genet. 21:5174-5184(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH LCA5; CEP290 AND SDCCAG8.
[8]"The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association."
Zach F., Grassmann F., Langmann T., Sorusch N., Wolfrum U., Stohr H.
Hum. Mol. Genet. 21:4573-4586(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH MICROTUBULES AND FAM161B.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
BX648834 mRNA. No translation available.
BX649029 mRNA. No translation available.
AC107081 Genomic DNA. No translation available.
AK023367 mRNA. Translation: BAB14544.1.
AK296255 mRNA. Translation: BAG58969.1. Different initiation.
BC107162 mRNA. No translation available.
BC107163 mRNA. No translation available.
CCDSCCDS42687.2. [Q3B820-1]
CCDS56120.1. [Q3B820-3]
RefSeqNP_001188472.1. NM_001201543.1. [Q3B820-3]
NP_115556.2. NM_032180.2. [Q3B820-1]
XP_006712177.1. XM_006712114.1. [Q3B820-2]
UniGeneHs.440466.

3D structure databases

ProteinModelPortalQ3B820.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123909. 2 interactions.
IntActQ3B820. 1 interaction.
STRING9606.ENSP00000385893.

PTM databases

PhosphoSiteQ3B820.

Polymorphism databases

DMDM182705173.

Proteomic databases

MaxQBQ3B820.
PaxDbQ3B820.
PRIDEQ3B820.

Protocols and materials databases

DNASU84140.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000404929; ENSP00000385158; ENSG00000170264. [Q3B820-3]
ENST00000405894; ENSP00000385893; ENSG00000170264. [Q3B820-1]
GeneID84140.
KEGGhsa:84140.
UCSCuc002sbm.4. human. [Q3B820-3]
uc002sbn.4. human. [Q3B820-1]

Organism-specific databases

CTD84140.
GeneCardsGC02M062051.
GeneReviewsFAM161A.
H-InvDBHIX0002084.
HGNCHGNC:25808. FAM161A.
HPAHPA032119.
MIM606068. phenotype.
613596. gene.
neXtProtNX_Q3B820.
Orphanet791. Retinitis pigmentosa.
PharmGKBPA162386876.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG80167.
HOGENOMHOG000049209.
HOVERGENHBG107870.
KOK16772.
OMAAEKHYSN.
PhylomeDBQ3B820.
TreeFamTF321199.

Gene expression databases

ArrayExpressQ3B820.
BgeeQ3B820.
CleanExHS_FAM161A.
GenevestigatorQ3B820.

Family and domain databases

InterProIPR019579. UPF0564.
[Graphical view]
PfamPF10595. UPF0564. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi84140.
NextBio73449.
PROQ3B820.
SOURCESearch...

Entry information

Entry nameF161A_HUMAN
AccessionPrimary (citable) accession number: Q3B820
Secondary accession number(s): B4DJV7, Q9H8R2
Entry history
Integrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: April 8, 2008
Last modified: July 9, 2014
This is version 73 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM