RAB11FIP1

protein-coding

RAB11 family interacting protein 1, the group of RAB11 binding domain containing|C2 domain containing

Gene summary

This gene encodes one of the Rab11-family interacting proteins (Rab11-FIPs), which play a role in the Rab-11 mediated recycling of vesicles. The encoded protein may be involved in endocytic sorting, trafficking of proteins including integrin subunits and epidermal growth factor receptor (EGFR), and transport between the recycling endosome and the trans-Golgi network. Alternative splicing results in multiple transcript variants. A pseudogene is described on the X chromosome. [provided by RefSeq, Dec 2013]

MANE transcript

NM_001002814.3

Inheritance

—

ClinVar variants

U:195B:24

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.61

Max pathogenic AF

—

Genomic locus

chr8:37,858,618-37,899,497

External References & Databases

Ensembl (ENSG00000156675)

Transcript & Mutation Effects

hg38 • Region Span ~40.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to RAB11FIP1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 202

not providedTotal: 10

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001002814.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	3 clinvar	5 clinvar	9
missense			193 clinvar	14 clinvar	2 clinvar	209
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	195	17	7	219

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 18 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001002814.3	RefSeq	NP_001002814.2	6	MANE Select
ENST00000330843.9	Ensembl	ENSP00000331342.4	6	MANE Select
NM_025151.5	RefSeq	NP_079427.4	5	Standard
ENST00000287263.8	Ensembl	ENSP00000287263.4	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Endocytosis - Homo sapiens (human)

Biological Process

protein transport
regulated exocytosis
negative regulation of adiponectin secretion

Molecular Function

Rab GTPase binding

Cellular Component

cytosol
phagocytic vesicle membrane
intracellular membrane-bounded organelle
recycling endosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000330843
Coding exons: 6
Length: 40850
Individuals with no LoFs: 125736
Homozygous LoFs: 0
Heterozygous LoFs: 12
Defined: 125748
p: 0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.665	647	696	0.929	0.0000370	8289
Missense (PolyPhen)		170	217.56	0.78139		2743
Synonymous	-0.668	316	301	1.05	0.0000186	2703
Loss of Function	2.19	22	36.3	0.607	0.00000190	476

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0.000095	0.000092	rare
European (Non-Finnish)	0.000081	0.000079	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: A Rab11 effector protein involved in the endosomal recycling process. Also involved in controlling membrane trafficking along the phagocytic pathway and in phagocytosis. {ECO:0000269|PubMed:11786538, ECO:0000269|PubMed:15181150, ECO:0000269|PubMed:15355514, ECO:0000269|PubMed:16920206}.;

Recessive Scores

pRec: 0.0998

Intolerance Scores

LoFtool: 0.728
RVIS EVS: 1.42
RVIS percentile EVS: 94.85

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.676

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	Medium	Medium	Medium