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Protein

Protein FAM171B

Gene

FAM171B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM171B
Gene namesi
Name:FAM171B
Synonyms:KIAA1946
ORF Names:NPD019
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:29412. FAM171B.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini33 – 353321ExtracellularSequence analysisAdd
BLAST
Transmembranei354 – 37421HelicalSequence analysisAdd
BLAST
Topological domaini375 – 826452CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162387220.

Polymorphism and mutation databases

BioMutaiFAM171B.
DMDMi313104238.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3232Sequence analysisAdd
BLAST
Chaini33 – 826794Protein FAM171BPRO_0000287148Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi108 – 1081N-linked (GlcNAc...)Sequence analysis
Glycosylationi113 – 1131N-linked (GlcNAc...)Sequence analysis
Glycosylationi213 – 2131N-linked (GlcNAc...)Sequence analysis
Glycosylationi268 – 2681N-linked (GlcNAc...)Sequence analysis
Modified residuei794 – 7941PhosphoserineBy similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ6P995.
PaxDbiQ6P995.
PeptideAtlasiQ6P995.
PRIDEiQ6P995.

PTM databases

iPTMnetiQ6P995.
PhosphoSiteiQ6P995.

Expressioni

Gene expression databases

BgeeiQ6P995.
CleanExiHS_FAM171B.
ExpressionAtlasiQ6P995. baseline and differential.
GenevisibleiQ6P995. HS.

Organism-specific databases

HPAiHPA010639.
HPA013434.

Interactioni

Protein-protein interaction databases

BioGridi127911. 12 interactions.
IntActiQ6P995. 3 interactions.
STRINGi9606.ENSP00000304108.

Structurei

3D structure databases

ProteinModelPortaliQ6P995.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi43 – 5816Gln-richAdd
BLAST

Sequence similaritiesi

Belongs to the FAM171 family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IEWE. Eukaryota.
ENOG410YAPI. LUCA.
GeneTreeiENSGT00530000063318.
HOVERGENiHBG107876.
InParanoidiQ6P995.
OMAiNEAVVMT.
OrthoDBiEOG7NPFSJ.
PhylomeDBiQ6P995.
TreeFamiTF331338.

Family and domain databases

InterProiIPR018890. Uncharacterised_FAM171.
[Graphical view]
PfamiPF10577. UPF0560. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6P995-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MARLCRRVPC TLLLGLAVVL LKARLVPAAA RAELSRSDLS LIQQQQQQQQ
60 70 80 90 100
QQQQQQKQLE EAEEERTEVP GATSTLTVPV SVFMLKVQVN DIISRQYLSQ
110 120 130 140 150
AVVEVFVNYT KTNSTVTKSN GAVLIKVPYK LGLSLTIIAY KDGYVLTPLP
160 170 180 190 200
WKTRRMPIYS SVTLSLFPQS QANIWLFEDT VLITGKLADA KSQPSVQFSK
210 220 230 240 250
ALIKLPDNHH ISNVTGYLTV LQQFLKVDNF LHTTGITLNK PGFENIELTP
260 270 280 290 300
LAAICVKIYS GGKELKVNGS IQVSLPLLRL NDISAGDRIP AWTFDMNTGA
310 320 330 340 350
WVNHGRGMVK EHNNHLIWTY DAPHLGYWIA APLPGTRGSG INEDSKDITA
360 370 380 390 400
YHTVFLTAIL GGTIVIVIGF FAVLLCYCRD KCGTPQKRER NITKLEVLKR
410 420 430 440 450
DQTTSTTHIN HISTVKVALK AEDKSQLFNA KNSSYSPQKK EPSKAETEER
460 470 480 490 500
VSMVKTRDDF KIYNEDVSFL SVNQNNYSRN PTQSLEPNVG SKQPKHINNN
510 520 530 540 550
LSSSLGDAQD EKRYLTGNEE AYGRSHIPEQ LMHIYSQPIA ILQTSDLFST
560 570 580 590 600
PEQLHTAKSA TLPRKGQLVY GQLMEPVNRE NFTQTLPKMP IHSHAQPPDA
610 620 630 640 650
REEDIILEGQ QSLPSQASDW SRYSSSLLES VSVPGTLNEA VVMTPFSSEL
660 670 680 690 700
QGISEQTLLE LSKGKPSPHP RAWFVSLDGK PVAQVRHSFI DLKKGKRTQS
710 720 730 740 750
NDTSLDSGVD MNELHSSRKL EREKTFIKSM HQPKILYLED LDLSSSESGT
760 770 780 790 800
TVCSPEDPAL RHILDGGSGV IMEHPGEESP GRKSTVEDFE ANTSPTKRRG
810 820
RPPLAKRDSK TNIWKKREER PLIPIN
Length:826
Mass (Da):92,181
Last modified:November 30, 2010 - v3
Checksum:iD79BF75EEFDAE9DE
GO
Isoform 2 (identifier: Q6P995-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     413-427: STVKVALKAEDKSQL → RNRRKSFHGKNSGRF
     428-826: Missing.

Show »
Length:427
Mass (Da):47,688
Checksum:i977A5161A80313F7
GO

Sequence cautioni

The sequence AAL57220.1 differs from that shown. Reason: Frameshift at positions 235 and 262. Curated
The sequence BAC04380.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC04586.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti42 – 421I → IQ in BAC03660 (PubMed:14702039).Curated
Sequence conflicti42 – 421I → IQQ in AAH60872 (PubMed:15489334).Curated
Sequence conflicti42 – 421I → IQQ in AAL57220 (Ref. 4) Curated
Sequence conflicti266 – 2661K → R in AAL57220 (Ref. 4) Curated
Sequence conflicti689 – 6891F → Y in BAC04380 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti302 – 3021V → I.1 Publication
Corresponds to variant rs17855085 [ dbSNP | Ensembl ].
VAR_032269

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei413 – 42715STVKV…DKSQL → RNRRKSFHGKNSGRF in isoform 2. 1 PublicationVSP_040122Add
BLAST
Alternative sequencei428 – 826399Missing in isoform 2. 1 PublicationVSP_040123Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK091423 mRNA. Translation: BAC03660.1.
AK094578 mRNA. Translation: BAC04380.1. Different initiation.
AK095604 mRNA. Translation: BAC04586.1. Different initiation.
AC017101 Genomic DNA. Translation: AAY24258.1.
BC060872 mRNA. Translation: AAH60872.1.
AF361495 mRNA. Translation: AAL57220.1. Frameshift.
AB075826 mRNA. Translation: BAB85532.1.
AL834264 mRNA. Translation: CAD38939.1.
CCDSiCCDS33347.1. [Q6P995-1]
RefSeqiNP_803237.3. NM_177454.3. [Q6P995-1]
UniGeneiHs.28872.

Genome annotation databases

EnsembliENST00000304698; ENSP00000304108; ENSG00000144369. [Q6P995-1]
GeneIDi165215.
KEGGihsa:165215.
UCSCiuc002upt.4. human. [Q6P995-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK091423 mRNA. Translation: BAC03660.1.
AK094578 mRNA. Translation: BAC04380.1. Different initiation.
AK095604 mRNA. Translation: BAC04586.1. Different initiation.
AC017101 Genomic DNA. Translation: AAY24258.1.
BC060872 mRNA. Translation: AAH60872.1.
AF361495 mRNA. Translation: AAL57220.1. Frameshift.
AB075826 mRNA. Translation: BAB85532.1.
AL834264 mRNA. Translation: CAD38939.1.
CCDSiCCDS33347.1. [Q6P995-1]
RefSeqiNP_803237.3. NM_177454.3. [Q6P995-1]
UniGeneiHs.28872.

3D structure databases

ProteinModelPortaliQ6P995.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127911. 12 interactions.
IntActiQ6P995. 3 interactions.
STRINGi9606.ENSP00000304108.

PTM databases

iPTMnetiQ6P995.
PhosphoSiteiQ6P995.

Polymorphism and mutation databases

BioMutaiFAM171B.
DMDMi313104238.

Proteomic databases

EPDiQ6P995.
PaxDbiQ6P995.
PeptideAtlasiQ6P995.
PRIDEiQ6P995.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000304698; ENSP00000304108; ENSG00000144369. [Q6P995-1]
GeneIDi165215.
KEGGihsa:165215.
UCSCiuc002upt.4. human. [Q6P995-1]

Organism-specific databases

CTDi165215.
GeneCardsiFAM171B.
H-InvDBHIX0002658.
HGNCiHGNC:29412. FAM171B.
HPAiHPA010639.
HPA013434.
neXtProtiNX_Q6P995.
PharmGKBiPA162387220.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEWE. Eukaryota.
ENOG410YAPI. LUCA.
GeneTreeiENSGT00530000063318.
HOVERGENiHBG107876.
InParanoidiQ6P995.
OMAiNEAVVMT.
OrthoDBiEOG7NPFSJ.
PhylomeDBiQ6P995.
TreeFamiTF331338.

Miscellaneous databases

ChiTaRSiFAM171B. human.
GenomeRNAii165215.
PROiQ6P995.

Gene expression databases

BgeeiQ6P995.
CleanExiHS_FAM171B.
ExpressionAtlasiQ6P995. baseline and differential.
GenevisibleiQ6P995. HS.

Family and domain databases

InterProiIPR018890. Uncharacterised_FAM171.
[Graphical view]
PfamiPF10577. UPF0560. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "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.
    , 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] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 203-826 (ISOFORM 1).
    Tissue: Amygdala and Brain.
  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.
    , 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. "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] (ISOFORM 1), VARIANT ILE-302.
    Tissue: Placenta.
  4. "A novel gene expressed in human normal pituitary."
    Liu F., Xu X.R., Qian B.Z., Xiao H., Chen Z., Han Z.
    Submitted (MAR-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-281.
    Tissue: Pituitary.
  5. "Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins."
    Nagase T., Kikuno R., Ohara O.
    DNA Res. 8:319-327(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 148-826 (ISOFORM 1).
    Tissue: Brain.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 497-826 (ISOFORM 1).
    Tissue: Amygdala.

Entry informationi

Entry nameiF171B_HUMAN
AccessioniPrimary (citable) accession number: Q6P995
Secondary accession number(s): Q53SK3
, Q8N1Y4, Q8N3K1, Q8N970, Q8NB81, Q8TF55, Q8WYR8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: November 30, 2010
Last modified: July 6, 2016
This is version 95 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.