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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CBLN1 Gene

protein-coding GIFtS: 53
GCID: GC16M049359

cerebellin 1 precursor

Explore 4 diseases affiliated with
CBLN1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Cerebellin 1 Precursor¹ ²
Cerebellin-1¹
Precerebellin³
Precerebellin³
CLN1⁵

External Ids:	HGNC: 1543¹	Entrez Gene: 869²	Ensembl: ENSG00000102924⁷	OMIM: 600432⁵	UniProtKB: P23435³

Export aliases for CBLN1 gene to outside databases

Previous GC identifers: GC16M039726 GC16M049049 GC16M049090 GC16M047870 GC16M035201

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CBLN1:

This gene encodes a cerebellum-specific precursor protein, precerebellin, with similarity to the globular

(non-collagen-like) domain of complement component C1qB. Precerebellin is processed to give rise to several

derivatives, including the hexadecapeptide, cerebellin, which is highly enriched in postsynaptic structures of

Purkinje cells. Cerebellin has also been found in human and rat adrenals, where it has been shown to enhance the

secretory activity of this gland. (provided by RefSeq, Aug 2008)

UniProtKB/Swiss-Prot: CBLN1_HUMAN, P23435

Function: Cerebellin-1 is required for synapse integrity and synaptic plasticity. Required for the ER export and

secretion of CBLN3 (By similarity)

Function: Cerebellin exerts neuromodulatory functions. Directly stimulates norepinephrine release via the adenylate

cyclase/PKA-dependent signaling pathway; and indirectly enhances adrenocortical secretion in vivo, through a paracrine

mechanism involving medullary catecholamine release (By similarity)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NC_018927.1 NT_010498.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CBLN1 gene promoter:
MEF-2 NRSF form 1 Nkx2-5 NRSF form 2 HEN1 MEF-2A CREB Pax-3 aMEF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CBLN1 promoter sequence

Search SABiosciences Chromatin IP Primers for CBLN1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CBLN1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q12.1 Ensembl cytogenetic band: 16q12.1 HGNC cytogenetic band: 16q12.1

CBLN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CBLN1 gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16M049359: view genomic region (about GC identifiers)

Start:	49,311,828 bp from pter	End:	49,315,742 bp from pter
Size:	3,915 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CBLN1_HUMAN, P23435 (See protein sequence)

Recommended Name: Cerebellin-1 precursor

Size: 193 amino acids; 21097 Da

Subunit: Homohexamer; disulfide-linked homotrimers. The trimers are assembled via the globular C1q domains. The trimers

associate via N-terminal cysteine residues to form disulfide-linked hexamers. Probably forms a heteomeric complex with

CBLN3. May interact with CBLN2 and CBLN4 (By similarity)

Subcellular location: Secreted. Membrane. Cell junction, synapse. Note=Might be bound to, or associated with, a

membrane

Developmental stage: Low at birth, the cerebellin concentration increases between day 5 and 15, and reaches peak values

between day 21 and 56

Secondary accessions: B2RAN9 P02682 Q52M09

Explore the universe of human proteins at neXtProt for CBLN1: NX_P23435

Post-translational modifications:

The proteolytic processing to yield cerebellin seems to occur either prior to the secretion by presynaptic neurons and

subsequent oligomerization or in some other location after release of the mature protein¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P23435

CBLN1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_004343.1

ENSEMBL proteins:

ENSP00000219197 ENSP00000455718 ENSP00000444651

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	Uscn Proteins for CBLN1

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0016020	membrane	IEA	--
GO:0030054	cell junction	IEA	--
GO:0045202	synapse	IEA	--

CBLN1 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CBLN1 for domains About GeneDecksing

2 InterPro domains/families:

IPR008983 Tumour_necrosis_fac-like_dom

IPR001073 C1q

Graphical View of Domain Structure for InterPro Entry P23435

ProtoNet protein and cluster: P23435

1 Blocks protein family: IPB001073 Complement C1q protein

UniProtKB/Swiss-Prot: CBLN1_HUMAN, P23435

Similarity: Contains 1 C1q domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: CBLN1_HUMAN, P23435

Function: Cerebellin-1 is required for synapse integrity and synaptic plasticity. Required for the ER export and

secretion of CBLN3 (By similarity)

Function: Cerebellin exerts neuromodulatory functions. Directly stimulates norepinephrine release via the adenylate

cyclase/PKA-dependent signaling pathway; and indirectly enhances adrenocortical secretion in vivo, through a paracrine

mechanism involving medullary catecholamine release (By similarity)

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	--	--
GO:0042803	protein homodimerization activity	IEA	--

CBLN1 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for CBLN1:

Increased circadian period len

3 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Cbln1):

behavior/neurological

nervous system

normal

CBLN1 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Cbln1^tm1Jim for CBLN1

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CBLN1

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CBLN1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CBLN1

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

2 Interacting proteins for CBLN1 (P23435³ ENSP00000219197⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CBLN3	Q6UW01³, ENSP00000267406⁴	I2D: score=1 STRING: ENSP00000267406
GRID2	O43424³	I2D: score=1

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007268	synaptic transmission	TAS	1704129
GO:0007399	nervous system development	TAS	1704129
GO:0009306	protein secretion	IEA	--
GO:0051965	positive regulation of synapse assembly	IEA	--

CBLN1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CBLN1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CBLN1
2 Novoseek chemical compound relationships for CBLN1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
adenylate	33.1	1	10688962 (1)
norepinephrine	20.5	1	10688962 (1)

Search CenterWatch for drugs/clinical trials and news about CBLN1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CBLN1 gene:

NM_004352.3

Unigene Cluster for CBLN1:

Cerebellin 1 precursor

Hs.458423 [show with all ESTs]

Unigene Representative Sequence: NM_004352

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000219197(uc002efq.3) ENST00000564786 ENST00000536749

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Additional cDNA sequence:

AK314276.1 BC093692.1 BC093718.1 M58583.1

3 DOTS entries:

DT.455159 DT.100702469 DT.120659494

24/34 AceView cDNA sequences (see all 34):

AI092751 T30957 T16851 AA425008 AW086497 AA351724 AA495901 AI147523

AA324367 BX394263 BX096195 AI130730 M58583 AI337927 AW950296 AA351125

NM_004352 BM563942 AA758163 BX348700 BG709519 AW296553 BQ898086 AI028715

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for CBLN1 About this scheme

ExUns:	1	^	2	^	3a	·	3b
SP1:
SP2:

ECgene alternative splicing isoforms for CBLN1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CBLN1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

CBLN1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

GABAergic Amacrine Cells

Amacrine, Retina

Testis

Seminiferous Tubules

Testis

Testis Cord

Testis

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CBLN1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CBLN1

SOURCE GeneReport for Unigene cluster: Hs.458423

UniProtKB/Swiss-Prot: CBLN1_HUMAN, P23435

Tissue specificity: In the Purkinje cells postsynaptic structures. In the cerebellum, cerebellin is much less abundant

than [des-Ser1]-cerebellin

SABiosciences Expression via Pathway-Focused PCR Array including CBLN1:

Neurotrophins & Receptors in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for CBLN1 gene from 3/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CBLN1⁶	Uncharacterized protein	73(a)	1 ↔ 1	11(7487630-7491290)
lizard (Anolis carolinensis)	Reptilia	CBLN1⁶	--	94(a)	1 ↔ 1	GL343469.1(205738-222186)
zebrafish (Danio rerio)	Actinopterygii	Dr.12534²	Transcribed sequence with moderate similarity to protein more	77.04(n)		BI533676.1

ENSEMBL Gene Tree for CBLN1 (if available)
TreeFam Gene Tree for CBLN1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CBLN1 gene

CBLN2² CBLN4² CAPRIN1² CBLN3² CAPRIN2²

5 SIMAP similar genes for CBLN1 using alignment to 2 protein entries: CBLN1_HUMAN (see all proteins):

CBLN4 CBLN2 CBLN3 CAPRIN2 C1QL1

CBLN1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs56402867^1,2		--	49311350(+)	`TCTCAC/TTCACA`	1	--	ds500¹		0	--	--	--	--
rs190483409^1,2		--	49311389(+)	`GAAACA/TGTTGG`	1	--	ds500¹		0	--	--	--	--
rs116612054^1,2	F	--	49311458(+)	`GTGGGT/CCCCGG`	1	--	ds500¹		1		WA	118
rs77540993^1,2	F	--	49311469(+)	`AGGCAC/TAGGGC`	1	--	ds500¹		1		WA	118
rs181758415^1,2		--	49311484(+)	`AGGGCA/GCCCGC`	1	--	ds500¹		0	--	--	--	--
rs79364219^1,2	C,F	--	49311677(+)	`CATTCC/TTGAAT`	1	--	ds500¹		1		WA	118
rs140916707^1,2		--	49311782(+)	`CCACTC/GGCTCC`	1	--	ds500¹		0	--	--	--	--
rs3833063^1,2	C	--	49311789(-)	`GGGAG-/GAGCCGGA`	1	--	ds500¹		0	--	--	--	--
rs3743777^1,2	C,F,H	--	49312016(-)	`GTTCCC/TGAAGC`	1	--	ut3¹		18		NS EA NA CSA WA	2340
rs186871577^1,2		--	49312053(+)	`CCGGGG/TACAGA`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CBLN1 (49311828 - 49315742 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CBLN1: --

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CBLN1 for disorders           About GeneDecksing

OMIM gene information: 600432    OMIM disorders: --

4 diseases for CBLN1:    About MalaCards

benign paroxysmal positional nystagmus nystagmus osteoporosis neuronitis

1 disease from the University of Copenhagen DISEASES database for CBLN1:

Benign paroxysmal positional nystagmus

Human Genome Epidemiology (HuGE) Navigator: CBLN1 (1 document)

Export disorders for CBLN1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CBLN1 gene, integrated from 9 sources (see all 21):
(articles sorted by number of sources associating them with CBLN1)

Utopia: connect your pdf to the dynamic
world of online information

Precerebellin is a cerebellum-specific protein with similarity to the globular domain of complement C1q B chain. (PubMed id 1704129)^{1, 2, 3, 9} Urade Y.... Morgan J.I. (1991)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Genomic structure and mapping of precerebellin and a precerebellin-related gene. (PubMed id 7877445)^{1, 3} Kavety B....Morgan J.I. (1994)
Purification and characterisation of cerebellins from human and porcine cerebellum. (PubMed id 2760624)^{1, 2} Yiangou Y.... Bloom S.R. (1989)
Cerebellin stimulates the secretory activity of the rat adrenal gland: in vitro and in vivo studies. (PubMed id 10688962)^{1, 9} Albertin G....Nussdorfer G.G. (2000)
Cerebellin enhances in vitro secretory activity of human adrenal gland. (PubMed id 10022429)^{1, 9} Mazzocchi G....Nussdorfer G.G. (1999)
Comparison of Cbln1 and Cbln2 functions using transgen ic and knockout mice. (PubMed id 22117778)¹ Rong Y....Morgan J.I. (2012)
Genome-wide pleiotropy of osteoporosis-related phenot ypes: The Framingham study. (PubMed id 20200953)¹ Karasik D....Demissie S. (2010)
Cbln1 is essential for interaction-dependent secretion of Cbln3. (PubMed id 17030622)¹ Bao D....Morgan J.I. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² Ota T.... Sugano S. (2004)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 869	HGNC: 1543	AceView: CBLN1	Ensembl:ENSG00000102924	euGenes: HUgn869
ECgene: CBLN1	H-InvDB: CBLN1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CBLN1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CBLN1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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cerebellin 1 precursor

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cerebellin 1 precursor

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