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Protein

Crescerin-1

Gene

FAM179B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Required for normal structure and function of primary cilia. Plays a role in the organization of axoneme microtubule bundles in primary cilia (By similarity). Interacts with microtubules and promotes microtubule polymerization via its HEAT repeat domains, especially those in TOG region 2 and 4 (By similarity).By similarity

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

BioCyciZFISH:G66-32656-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Crescerin-1Curated
Alternative name(s):
Protein FAM179B
Gene namesi
Name:FAM179B
Synonyms:KIAA0423
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:19959. FAM179B.

Subcellular locationi

  • Cell projectioncilium By similarity
  • Cytoplasmcytoskeleton By similarity

  • Note: Detected along the length of primary cilia and at the basal body. Colocalization with the cytoplasmic microtubule cytoskeleton upon heterologous expression is most likely an artifact.By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Organism-specific databases

DisGeNETi23116.
OpenTargetsiENSG00000198718.
PharmGKBiPA162387516.

Polymorphism and mutation databases

BioMutaiFAM179B.
DMDMi296439476.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002519521 – 1720Crescerin-1Add BLAST1720

Proteomic databases

EPDiQ9Y4F4.
PaxDbiQ9Y4F4.
PeptideAtlasiQ9Y4F4.
PRIDEiQ9Y4F4.

PTM databases

iPTMnetiQ9Y4F4.
PhosphoSitePlusiQ9Y4F4.

Expressioni

Gene expression databases

BgeeiENSG00000198718.
CleanExiHS_FAM179B.
ExpressionAtlasiQ9Y4F4. baseline and differential.
GenevisibleiQ9Y4F4. HS.

Organism-specific databases

HPAiHPA050849.
HPA053559.

Interactioni

Protein-protein interaction databases

BioGridi116738. 2 interactors.
IntActiQ9Y4F4. 3 interactors.
STRINGi9606.ENSP00000355045.

Structurei

3D structure databases

ProteinModelPortaliQ9Y4F4.
SMRiQ9Y4F4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati175 – 212HEAT 1Sequence analysisAdd BLAST38
Repeati214 – 247HEAT 2Sequence analysisAdd BLAST34
Repeati251 – 289HEAT 3Sequence analysisAdd BLAST39
Repeati345 – 384HEAT 4Sequence analysisAdd BLAST40
Repeati390 – 427HEAT 5Sequence analysisAdd BLAST38
Repeati431 – 466HEAT 6Sequence analysisAdd BLAST36
Repeati467 – 504HEAT 7Sequence analysisAdd BLAST38
Repeati506 – 543HEAT 8Sequence analysisAdd BLAST38
Repeati1294 – 1331HEAT 9Sequence analysisAdd BLAST38
Repeati1335 – 1372HEAT 10Sequence analysisAdd BLAST38
Repeati1485 – 1522HEAT 11Sequence analysisAdd BLAST38
Repeati1526 – 1563HEAT 12Sequence analysisAdd BLAST38
Repeati1567 – 1605HEAT 13Sequence analysisAdd BLAST39

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni94 – 312TOG 1By similarityAdd BLAST219
Regioni352 – 596TOG 2By similarityAdd BLAST245
Regioni1256 – 1425TOG 3By similarityAdd BLAST170
Regioni1484 – 1720TOG 4By similarityAdd BLAST237

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi971 – 1129Ser-richAdd BLAST159

Domaini

The TOG regions are composed of HEAT-type repeats that assemble into a solenoid structure. They mediate interaction with microtubules.By similarity

Sequence similaritiesi

Belongs to the Crescerin family.Curated
Contains 13 HEAT repeats.Sequence analysis

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG2933. Eukaryota.
ENOG410XSBP. LUCA.
GeneTreeiENSGT00390000012217.
HOGENOMiHOG000112454.
HOVERGENiHBG106757.
InParanoidiQ9Y4F4.
PhylomeDBiQ9Y4F4.
TreeFamiTF315518.

Family and domain databases

Gene3Di1.25.10.10. 4 hits.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR028401. FAM179B.
[Graphical view]
PANTHERiPTHR21567:SF6. PTHR21567:SF6. 2 hits.
SUPFAMiSSF48371. SSF48371. 4 hits.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y4F4-1) [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
MAAAPSALLL LPPFPVLSTY RLQSRSRPSA PETDDSRVGG IMRGEKNYYF
60 70 80 90 100
RGAAGDHGSC PTTTSPLASA LLMPSEAVSS SWSESGGGLS GGDEEDTRLL
110 120 130 140 150
QLLRTARDPS EAFQALQAAL PRRGGRLGFP RRKEALYRAL GRVLVEGGSD
160 170 180 190 200
EKRLCLQLLS DVLRGQGEAG QLEEAFSLAL LPQLVVSLRE ENPALRKDAL
210 220 230 240 250
QILHICLKRS PGEVLRTLIQ QGLESTDARL RASTALLLPI LLTTEDLLLG
260 270 280 290 300
LDLTEVIISL ARKLGDQETE EESETAFSAL QQIGERLGQD RFQSYISRLP
310 320 330 340 350
SALRRHYNRR LESQFGSQVP YYLELEASGF PEDPLPCAVT LSNSNLKFGI
360 370 380 390 400
IPQELHSRLL DQEDYKNRTQ AVEELKQVLG KFNPSSTPHS SLVGFISLLY
410 420 430 440 450
NLLDDSNFKV VHGTLEVLHL LVIRLGEQVQ QFLGPVIAAS VKVLADNKLV
460 470 480 490 500
IKQEYMKIFL KLMKEVGPQQ VLCLLLEHLK HKHSRVREEV VNICICSLLT
510 520 530 540 550
YPSEDFDLPK LSFDLAPALV DSKRRVRQAA LEAFAVLASS MGSGKTSILF
560 570 580 590 600
KAVDTVELQD NGDGVMNAVQ ARLARKTLPR LTEQGFVEYA VLMPSSAGGR
610 620 630 640 650
SNHLAHGADT DWLLAGNRTQ SAHCHCGDHV RDSMHIYGSY SPTICTRRVL
660 670 680 690 700
SAGKGKNKLP WENEQPGIMG ENQTSTSKDI EQFSTYDFIP SAKLKLSQGM
710 720 730 740 750
PVNDDLCFSR KRVSRNLFQN SRDFNPDCLP LCAAGTTGTH QTNLSGKCAQ
760 770 780 790 800
LGFSQICGKT GSVGSDLQFL GTTSSHQEKV YASLNFGSKT QQTFGSQTEC
810 820 830 840 850
TSSNGQNPSP GAYILPSYPV SSPRTSPKHT SPLIISPKKS QDNSVNFSNS
860 870 880 890 900
WPLKSFEGLS KPSPQKKLVS QKSSDPTGRN HGENSQEKPP VQLTPALVRS
910 920 930 940 950
PSSRRGLNGT KPVPPIPRGI SLLPDKADLS TVGHKKKEPD DIWKCEKDSL
960 970 980 990 1000
PIDLSELNFK DKDLDQEEMH SSLRSLRNSA AKKRAKLSGS TSDLESPDSA
1010 1020 1030 1040 1050
MKLDLTMDSP SLSSSPNINS YSESGVYSQE SLTSSLSTTP QGKRIMSDIF
1060 1070 1080 1090 1100
PTFGSKPCPT RLSSAKKKIS HIAEQSPSAG SSSNPQQISS FDFTTTKALS
1110 1120 1130 1140 1150
EDSVVVVGKG VFGSLSSAPA TCSQSVISSV ENGDTFSIKQ SIEPPSGIYG
1160 1170 1180 1190 1200
RSVQQNISSY LDVENEKDAK VSISKSTYNK MRQKRKEEKE LFHNKDCEKK
1210 1220 1230 1240 1250
EKNSWERMRH TGTEKMASES ETPTGAISQY KERMPSVTHS PEIMDLSELR
1260 1270 1280 1290 1300
PFSKPEIALT EALRLLADED WEKKIEGLNF IRCLAAFHSE ILNTKLHETN
1310 1320 1330 1340 1350
FAVVQEVKNL RSGVSRAAVV CLSDLFTYLK KSMDQELDTT VKVLLHKAGE
1360 1370 1380 1390 1400
SNTFIREDVD KALRAMVNNV TPARAVVSLI NGGQRYYGRK MLFFMMCHPN
1410 1420 1430 1440 1450
FEKMLEKYVP SKDLPYIKDS VRNLQQKGLG EIPLDTPSAK GRRSHTGSVG
1460 1470 1480 1490 1500
NTRSSSVSRD AFNSAERAVT EVREVTRKSV PRNSLESAEY LKLITGLLNA
1510 1520 1530 1540 1550
KDFRDRINGI KQLLSDTENN QDLVVGNIVK IFDAFKSRLH DSNSKVNLVA
1560 1570 1580 1590 1600
LETMHKMIPL LRDHLSPIIN MLIPAIVDNN LNSKNPGIYA AATNVVQALS
1610 1620 1630 1640 1650
QHVDNYLLLQ PFCTKAQFLN GKAKQDMTEK LADIVTELYQ RKPHATEQKV
1660 1670 1680 1690 1700
LVVLWHLLGN MTNSGSLPGA GGNIRTATAK LSKALFAQMG QNLLNQAASQ
1710 1720
PPHIKKSLEE LLDMTILNEL
Length:1,720
Mass (Da):189,360
Last modified:May 18, 2010 - v4
Checksum:iB07E731FDE69EE7D
GO
Isoform 2 (identifier: Q9Y4F4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     969-974: MHSSLR → VRTKYF
     975-1720: Missing.

Note: No experimental confirmation available.
Show »
Length:974
Mass (Da):106,960
Checksum:i243AD70C87AB776A
GO
Isoform 3 (identifier: Q9Y4F4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     969-995: MHSSLRSLRNSAAKKRAKLSGSTSDLE → VRHISNIWVKTLSNKTFFCKEKNFSYC
     996-1720: Missing.

Note: No experimental confirmation available.
Show »
Length:995
Mass (Da):109,440
Checksum:iB0A3F68CFF984DCF
GO

Sequence cautioni

The sequence BAA24853 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAH18354 differs from that shown. Reason: Frameshift at positions 1069 and 1506.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti191E → G in CAH18354 (PubMed:12508121).Curated1
Sequence conflicti477E → K in BAA24853 (PubMed:9455477).Curated1
Sequence conflicti992S → L in BAA24853 (PubMed:9455477).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027739416E → Q.Corresponds to variant rs3825629dbSNPEnsembl.1
Natural variantiVAR_027740511L → V.Corresponds to variant rs3742591dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_020821969 – 995MHSSL…TSDLE → VRHISNIWVKTLSNKTFFCK EKNFSYC in isoform 3. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_020822969 – 974MHSSLR → VRTKYF in isoform 2. 1 Publication6
Alternative sequenceiVSP_020823975 – 1720Missing in isoform 2. 1 PublicationAdd BLAST746
Alternative sequenceiVSP_020824996 – 1720Missing in isoform 3. 1 PublicationAdd BLAST725

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB007883 mRNA. Translation: BAA24853.2. Different initiation.
CR749557 mRNA. Translation: CAH18354.1. Frameshift.
AL049870 Genomic DNA. No translation available.
AL121809 Genomic DNA. No translation available.
BC057255 mRNA. Translation: AAH57255.1.
CCDSiCCDS9681.1. [Q9Y4F4-1]
PIRiT00057.
RefSeqiNP_055906.2. NM_015091.3. [Q9Y4F4-1]
XP_016876589.1. XM_017021100.1. [Q9Y4F4-3]
UniGeneiHs.371078.

Genome annotation databases

EnsembliENST00000361577; ENSP00000355045; ENSG00000198718. [Q9Y4F4-1]
ENST00000557423; ENSP00000451829; ENSG00000198718. [Q9Y4F4-3]
GeneIDi23116.
KEGGihsa:23116.
UCSCiuc001wvv.4. human. [Q9Y4F4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB007883 mRNA. Translation: BAA24853.2. Different initiation.
CR749557 mRNA. Translation: CAH18354.1. Frameshift.
AL049870 Genomic DNA. No translation available.
AL121809 Genomic DNA. No translation available.
BC057255 mRNA. Translation: AAH57255.1.
CCDSiCCDS9681.1. [Q9Y4F4-1]
PIRiT00057.
RefSeqiNP_055906.2. NM_015091.3. [Q9Y4F4-1]
XP_016876589.1. XM_017021100.1. [Q9Y4F4-3]
UniGeneiHs.371078.

3D structure databases

ProteinModelPortaliQ9Y4F4.
SMRiQ9Y4F4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116738. 2 interactors.
IntActiQ9Y4F4. 3 interactors.
STRINGi9606.ENSP00000355045.

PTM databases

iPTMnetiQ9Y4F4.
PhosphoSitePlusiQ9Y4F4.

Polymorphism and mutation databases

BioMutaiFAM179B.
DMDMi296439476.

Proteomic databases

EPDiQ9Y4F4.
PaxDbiQ9Y4F4.
PeptideAtlasiQ9Y4F4.
PRIDEiQ9Y4F4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000361577; ENSP00000355045; ENSG00000198718. [Q9Y4F4-1]
ENST00000557423; ENSP00000451829; ENSG00000198718. [Q9Y4F4-3]
GeneIDi23116.
KEGGihsa:23116.
UCSCiuc001wvv.4. human. [Q9Y4F4-1]

Organism-specific databases

CTDi23116.
DisGeNETi23116.
GeneCardsiFAM179B.
H-InvDBHIX0011620.
HIX0202040.
HGNCiHGNC:19959. FAM179B.
HPAiHPA050849.
HPA053559.
neXtProtiNX_Q9Y4F4.
OpenTargetsiENSG00000198718.
PharmGKBiPA162387516.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2933. Eukaryota.
ENOG410XSBP. LUCA.
GeneTreeiENSGT00390000012217.
HOGENOMiHOG000112454.
HOVERGENiHBG106757.
InParanoidiQ9Y4F4.
PhylomeDBiQ9Y4F4.
TreeFamiTF315518.

Enzyme and pathway databases

BioCyciZFISH:G66-32656-MONOMER.

Miscellaneous databases

GenomeRNAii23116.
PROiQ9Y4F4.

Gene expression databases

BgeeiENSG00000198718.
CleanExiHS_FAM179B.
ExpressionAtlasiQ9Y4F4. baseline and differential.
GenevisibleiQ9Y4F4. HS.

Family and domain databases

Gene3Di1.25.10.10. 4 hits.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR028401. FAM179B.
[Graphical view]
PANTHERiPTHR21567:SF6. PTHR21567:SF6. 2 hits.
SUPFAMiSSF48371. SSF48371. 4 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiCREC1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y4F4
Secondary accession number(s): Q68D66, Q6PG27
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 121 of the entry and version 4 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 14
    Human chromosome 14: 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.