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Protein

Protein FAM57B

Gene

FAM57B

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

Functioni

Involved in ceramide synthesis.By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processLipid biosynthesis, Lipid metabolism

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM57B
Gene namesi
Name:FAM57B
ORF Names:FP1188
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000149926.13
HGNCiHGNC:25295 FAM57B
MIMi615175 gene
neXtProtiNX_Q71RH2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei130 – 150HelicalSequence analysisAdd BLAST21
Transmembranei159 – 179HelicalSequence analysisAdd BLAST21
Transmembranei194 – 214HelicalSequence analysisAdd BLAST21
Transmembranei223 – 243HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000149926
PharmGKBiPA142671862

Polymorphism and mutation databases

BioMutaiFAM57B
DMDMi62510682

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001855421 – 274Protein FAM57BAdd BLAST274

Proteomic databases

PaxDbiQ71RH2
PeptideAtlasiQ71RH2
PRIDEiQ71RH2
ProteomicsDBi68621
68622 [Q71RH2-2]

PTM databases

iPTMnetiQ71RH2
PhosphoSitePlusiQ71RH2

Expressioni

Gene expression databases

BgeeiENSG00000149926 Expressed in 169 organ(s), highest expression level in right testis
CleanExiHS_FAM57B
ExpressionAtlasiQ71RH2 baseline and differential
GenevisibleiQ71RH2 HS

Organism-specific databases

HPAiHPA030837

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000369863

Structurei

3D structure databases

ProteinModelPortaliQ71RH2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini34 – 261TLCPROSITE-ProRule annotationAdd BLAST228

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4561 Eukaryota
ENOG410XPW0 LUCA
GeneTreeiENSGT00510000046654
HOGENOMiHOG000237329
HOVERGENiHBG051539
InParanoidiQ71RH2
OMAiASIPFHM
OrthoDBiEOG091G0X5A
PhylomeDBiQ71RH2
TreeFamiTF350344

Family and domain databases

InterProiView protein in InterPro
IPR006634 TLC-dom
PfamiView protein in Pfam
PF03798 TRAM_LAG1_CLN8, 1 hit
SMARTiView protein in SMART
SM00724 TLC, 1 hit
PROSITEiView protein in PROSITE
PS50922 TLC, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q71RH2-1) [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
MLTPMVAGGV VFPGLFLLSK NTLQRLPQLR WEEADAVIVS ARLVSSVQAI
60 70 80 90 100
MASTAGYIVS TSCKHIIDDQ HWLSSAYTQF AVPYFIYDIY AMFLCHWHKH
110 120 130 140 150
QVKGHGGDDG AARAPGSTWA IARGYLHKEF LMVLHHAAMV LVCFPLSVVW
160 170 180 190 200
RQGKGDFFLG CMLMAEVSTP FVCLGKILIQ YKQQHTLLHK VNGALMLLSF
210 220 230 240 250
LCCRVLLFPY LYWAYGRHAG LPLLAVPLAI PAHVNLGAAL LLAPQLYWFF
260 270
LICRGACRLF WPRSRPPPAC QAQD
Length:274
Mass (Da):30,629
Last modified:July 5, 2004 - v1
Checksum:iFB1CF6E96102EC54
GO
Isoform 2 (identifier: Q71RH2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-50: Missing.

Note: No experimental confirmation available.
Show »
Length:224
Mass (Da):25,224
Checksum:iA0F07320E64672A6
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BST4H3BST4_HUMAN
Protein FAM57B
FAM57B
146Annotation score:
H3BUS2H3BUS2_HUMAN
Protein FAM57B
FAM57B
170Annotation score:
H3BUM7H3BUM7_HUMAN
Protein FAM57B
FAM57B
42Annotation score:
I3L180I3L180_HUMAN
Protein FAM57B
FAM57B
17Annotation score:

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0133431 – 50Missing in isoform 2. 1 PublicationAdd BLAST50

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136777 mRNA Translation: CAB66711.1
AF370365 mRNA Translation: AAQ15201.1
BC007892 mRNA Translation: AAH07892.2
CCDSiCCDS10667.2 [Q71RH2-1]
CCDS81967.1 [Q71RH2-2]
RefSeqiNP_001305433.1, NM_001318504.1 [Q71RH2-2]
NP_113666.2, NM_031478.5 [Q71RH2-1]
XP_016879242.1, XM_017023753.1
XP_016879243.1, XM_017023754.1 [Q71RH2-2]
UniGeneiHs.558560
Hs.651588
Hs.736831

Genome annotation databases

EnsembliENST00000279389; ENSP00000279389; ENSG00000149926 [Q71RH2-2]
ENST00000380495; ENSP00000369863; ENSG00000149926 [Q71RH2-1]
GeneIDi83723
KEGGihsa:83723
UCSCiuc002dvt.4 human [Q71RH2-1]

Keywords - Coding sequence diversityi

Alternative promoter usage

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136777 mRNA Translation: CAB66711.1
AF370365 mRNA Translation: AAQ15201.1
BC007892 mRNA Translation: AAH07892.2
CCDSiCCDS10667.2 [Q71RH2-1]
CCDS81967.1 [Q71RH2-2]
RefSeqiNP_001305433.1, NM_001318504.1 [Q71RH2-2]
NP_113666.2, NM_031478.5 [Q71RH2-1]
XP_016879242.1, XM_017023753.1
XP_016879243.1, XM_017023754.1 [Q71RH2-2]
UniGeneiHs.558560
Hs.651588
Hs.736831

3D structure databases

ProteinModelPortaliQ71RH2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000369863

PTM databases

iPTMnetiQ71RH2
PhosphoSitePlusiQ71RH2

Polymorphism and mutation databases

BioMutaiFAM57B
DMDMi62510682

Proteomic databases

PaxDbiQ71RH2
PeptideAtlasiQ71RH2
PRIDEiQ71RH2
ProteomicsDBi68621
68622 [Q71RH2-2]

Protocols and materials databases

DNASUi83723
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000279389; ENSP00000279389; ENSG00000149926 [Q71RH2-2]
ENST00000380495; ENSP00000369863; ENSG00000149926 [Q71RH2-1]
GeneIDi83723
KEGGihsa:83723
UCSCiuc002dvt.4 human [Q71RH2-1]

Organism-specific databases

CTDi83723
EuPathDBiHostDB:ENSG00000149926.13
GeneCardsiFAM57B
H-InvDBiHIX0012937
HGNCiHGNC:25295 FAM57B
HPAiHPA030837
MIMi615175 gene
neXtProtiNX_Q71RH2
OpenTargetsiENSG00000149926
PharmGKBiPA142671862
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4561 Eukaryota
ENOG410XPW0 LUCA
GeneTreeiENSGT00510000046654
HOGENOMiHOG000237329
HOVERGENiHBG051539
InParanoidiQ71RH2
OMAiASIPFHM
OrthoDBiEOG091G0X5A
PhylomeDBiQ71RH2
TreeFamiTF350344

Miscellaneous databases

GeneWikiiFAM57B
GenomeRNAii83723
PROiPR:Q71RH2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000149926 Expressed in 169 organ(s), highest expression level in right testis
CleanExiHS_FAM57B
ExpressionAtlasiQ71RH2 baseline and differential
GenevisibleiQ71RH2 HS

Family and domain databases

InterProiView protein in InterPro
IPR006634 TLC-dom
PfamiView protein in Pfam
PF03798 TRAM_LAG1_CLN8, 1 hit
SMARTiView protein in SMART
SM00724 TLC, 1 hit
PROSITEiView protein in PROSITE
PS50922 TLC, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiFA57B_HUMAN
AccessioniPrimary (citable) accession number: Q71RH2
Secondary accession number(s): Q9H0J1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 12, 2005
Last sequence update: July 5, 2004
Last modified: November 7, 2018
This is version 112 of the entry and version 1 of the sequence. See 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 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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